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Oliver King

The Musculoskeletal System
The skeleton
Fig [11]
Overview
The skeleton comprises two main
components, the axial and appendicular
skeleton
...
The appendicular
skeletal structure is then the parts that branch
from this such as those in the arms and legs,
hands and feet etc
...

However, it also consists of joints, which in
combination with antagonistic pairs of skeletal
muscle allow for movement, and the structure
itself of the bones allows to produce blood in
the marrow
...
The arm
contains three long bones; the humerus, the radius and the ulna
...
(In the bone marrow)
● Short Bones
The short bones within the body are designed to take a lot of weight and absorb the stresses of
activities such as running and jumping
...

● Flat Bones
These are like irregular bones which are usually protective
...

● Irregular Bones
These often provide protection and support within the body, examples of this include the
vertebrae and the patella
...
Protection - The cranium protects the soft tissue of the brain
2
...
Blood production - Red blood cells are made in the ribs and limb bones
4
...
It consists of the skull, vertebral column, thoracic and sternum
...

During childhood, many of these
(especially in the cranium) are
separate and may be moved, this
is so that during birth it is easier for
the baby to pass through the birth
canal
...

The main function of the skull is
that of the protection of the brain,
being rounded it is tough in
diverting force from the point of
impact and sharing that external
Fig [2]
force across the surface, lessening
the damage of impact
...
These serve many of our basic needs to
survive such as eating, sight and smell as well as hearing and much more
...
But additionally, it allows for much of the movement we
are capable of, such as twisting in various directions and bending
back and forth (as well as supporting our weight and our head)
...

This movement lessons as you travel down the spine and becomes
more of a rigid support, this is especially seen in the lumbar region
of the spine which is the least flexible
...
These ribs
perform a variety of functions, such as
that of protecting vital organs such as the
heart, lungs and thymus gland
...
[15]
Appendicular Skeleton
Fig [5]
The appendicular skeleton is
consistent with the bones of the
limbs that derive from the axial
skeleton (as shown in the areas
highlighted in purple above)
...
However, they also
produce a large percentage (the
femur particularly) of the blood
within the body, and of course,
they also provide support for the
weight of the body due to high
compressive strength
...

These consist of many small bones such as the tarsals and metatarsals, carpals, metacarpals
and phalanges
...
A further depth of this can be seen below
...
In most cases, muscles connect
to bones in two places with the use of tendons and work in antagonistic pairs (both contracting
but leveraging different sides of a bone or bones to allow for movement in multiple directions)
...
g
...
In this type of joint, the end of
the bone is shaped like a ball
...
They allow for movement in all
direction
● Hinge joints
Allow extensive flexion and extension
(Bending and straightening) with only a
small amount of rotation
...
They are shaped to move
against each other with minimum friction
...

● Pivot joints
Only allow for rotation
...
This is exemplary at the top of the spinal column, between the axis and atlas bones of the
neck
...
This is crucial in maintaining balance
and awareness
...
These small bones can move over one another to increase the
flexibility of the hands and feet
...

● Saddle Joint
Occur where the concave and convex surfaces meet
...
Examples include the fingers and thumbs
...
This allows for movement in all directions, however not full rotations
...
[15]
Connective Tissues
● Cartilage
Forms a cushion between the bones in order to stop them from rubbing
● Ligaments
Ligaments are like a very strong string that holds bones together
● Tendons
Tendons attach muscles to bones (or to other muscles) [15]
Six different movements of the joints
1
...
Flexion
Bending or closing the joint (commonly in hinge joints)
3
...
Adduction
Moving a limb towards the body (ball and socket)
5
...
Rotation
Turning or rotational movement of a body part [15]
An example:
When raising and lowering the radius and ulna in the forearm, the hinge joint is flexed using the
bicep on top of the humerus
...
Working in
antagonistic pairs, extension then takes place with the tricep underneath the humerus, this pulls
on the radius with tendons which then extends the forearm away from the muscles
...


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Bone composition
Bone is a connective tissue, which comes under the broad umbrella including the blood,
cartilage and the ‘connective tissue proper’ which is a primary tissue which forms the basic
packaging of organs in their place
...
The Matrix - unstructured material that fills the space between cells
2
...
The cells that make the matrix and fibres [15]

Some key terms in the understanding of bone composition
● Reticular Fibres
Fibres made of collagen and coated with glycoproteins
...

● Osteoblasts
Cells that make the bones
● Haematopoietic stem cells
Stem cells that divide and give rise to blood cells
● Chondroblasts
Cells in cartilage that are actively dividing by mitosis
...
Haematopoietic stem cells in red bone marrow then
make the blood, and so the chondroblasts form the matrix for the cartilage
...

This matrix made mostly of collagen fibres and some ground substance, both secreted by the
osteoblasts
...
The collagen fibres are lined up along the lines of tension
(pulling force) that bones sustain
...

While osteoblasts deposit bone, phagocytic cells (which are formed in the bone marrow and
called osteoclasts), break it down and absorb it
...
However, this cycle can respond to external factors such as additional stress to
the bones, where the osteoblasts would then work more and create additional bone
...
Through looking at the bone
injuries suffered throughout their lives
...
Excessive withdrawals weaken

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the bone and can lead to fractures (the most common bone disorder)
...
[15]
In comparison, adults have:
● Hyaline cartilage covering the epiphysis (ends of the bones)
...

● Fibrocartilage, with many bundles of collagen (enabling it to withstand compression)
...

● Elastic cartilage, which contains many elastin fibres and collagen in the epiglottis
...

Cartilage
It is smooth and tough, containing no blood vessels
...
At the joints, these are lubricated through synovial fluid made at the
joints
...
Over time, these solid bones develop hollow centres, reducing the weight of the bone
and only slightly reducing strength, as this is filled with marrow it produces red blood cells
allowing for the transportation of oxygen and nutrients around the body
...
These bones have a growth plate at each end
during this process (formed of hyaline cartilage)
...
As these cells die they leave spaces to be filled by
bone formed from the osteoblasts
...

There are two types of bone marrow (red and yellow)
...
Approximately 200 million red blood cells are produced per day
...
[15]

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Skeletal Muscle
Skeletal muscle functions
Fig [7]
● Movement- skeletal muscles work in
antagonistic pairs
...

● Posture- some muscle fibres always
contract to produce muscle tone
● Stabilise joints
● Generate heat- muscles cells contract
more during movement such as
shivering, this causes respiration to
increase and henceforth the body begins
to generate heat
...
Regular
training tones muscles and helps to
create good posture
...

● Muscle tone developed by regular
exercise makes daily tasks easier
...

● Actin
A thin, contractile protein filament, containing
‘active’ or ‘binding’ sites
...
In a relaxed state, the tropomyosin covers these sites
...


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The filament consists of many myosin molecules
...
The head attaches to the myosin binding sites and overlap
...
The heads contain ATPase enzyme which releases energy from the
ATP to power muscle contraction and moves the myosin heads
...
The myofilaments are arranged so that each myosin is surrounded by 6
actins
...
This occurs
after the action potential from motor
neurons reaches the actin and causes it to
unfurl, to which in return, the myosin heads
‘hook’ into the actin binding sites much like
a zip-tie
...
During this process, the A
band does not change in length
...
In turn, this causes the pulling of tendons and therefore gives movement
to the joints of the body, allowing for actions within the six joint types
...
(such as that of the
bicep and tricep in the hinge joint of the elbow, pulling upon the ulna and radius to flex and
extend)
...

In the shoulder, the spherical humeral head at the end of the tuberosities is inserted into the
glenoid cavity of the scapula
...
The humerus is then further secured via the coracohumeral ligament (found
between the acromion and coracoid process), the three band of the glenohumeral ligaments
(spanning from the scapula directly to the tuberosities), and the coracoacromial ligament
...
The rotator cuff consists of four of the seven
scapulohumeral muscles involved in the movement of the shoulder
...
The other muscles such
as the pectoralis major and coracobrachialis, then allow for the wide range of movements
available to the shoulder
...
This wide
range of mobility is what allows the ball and socket joints of the shoulders and hips to give the
humerus of the arm and femur of the leg to move so freely
...
In such case, a hinge joint
only allows for two types of movement, flexion and extension
...
Therefore, while the bicep contracts and pulls the tendons of the ulna, the tricep
relaxes and therefore relaxes the tendons of the radius and causes the forearm to raise with
these in combination
...
[2] [15]
● Pivot Joints
As aforementioned, these joints work by the end of one bone having a ‘peg’ which fits into the
ring formed by the other bone
...
This allows for the turning, raising and lowering of
the skull, giving us the joint movement of rotation
...

The major muscles responsible for the movement of the head and neck are that of the
sternocleidomastoid and the trapezius
...
When working in pairs from the opposing left and right

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sides of the body, they may move the head via tilting it left and right, while those under the jaw
and around the read of the head and neck may flex and extend gradually for the lateral
rotational movement of the head
...
They are
formed between bones that meet nearly flat or articularly flat surfaces
...
They also allow for minor rotational
movement; however, this is limited by elasticity available to the joint capsule and the shape of
the small bones themselves
...

These joints are held together with a fibrous joint capsule and various ligaments, which then
restrict the movement to prevent the dislocation of the joint
...
The muscles
themselves affecting the gliding joints found in the palm are in the forearm, these, in turn, have
tendons which mostly pass under the transverse carpal ligament and the dorsal carpal ligament,
this space between the two is then known as the carpal tunnel
...
These compartments of the forearm work in combination and use the carpal tunnel to
then flex and extend the various joints of the wrist, palm and fingers
...

The most appropriate example of this would be that of the carpometacarpal joint which adjoins
the thumb to the hand
...
As the
trapezium forms the ‘saddle’ for the metacarpal to sit upon
...
Once again, this is controlled via the
tendons in the carpal tunnel and muscles of the forearm extending from the bicep and tricep
...
[5] [15]

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● Condyloid Joints
An example of the condyloid joint is that of the wrist
...

The construction of a condyloid joint allows for the movement of two planes, with flexion and
extension, as well as adduction, abduction and circumduction
...
It allows humans to
rotate the wrist and lay it at an almost 90-degree angle to the forearm towards the radius
...
[6] [15]
Slow and Fast Twitch Muscles
Human skeletal muscles consist of slow and fast twitch muscles
...

Slow twitch (type 1) are red in colour, and have large volumes of myoglobin, storing large
amounts of oxygen and mitochondria
...
They also
contain less sarcoplasmic reticulum and have a dense network of capillaries
...
They manufacture and
split ATP at a fast rate by utilising both aerobic and anaerobic metabolism and many capillaries,
and so they produce fast, strong muscle contractions, although they are prone to fatigue (more
so than type 1)
...
They slowly produce ATP via anaerobic
respiration but break it down very quickly
...
These can be converted to type 2a with
resistance training and they are primarily found in large quantities in the arms, in comparison to
the others, they are the largest muscles by volume
...
K
...
It can also be
linked to obesity
...
These
spurs cause a decrease in available volume in the joint cavity and restrict movement
...

Treatment - The usual path of treatment is the use of anti-inflammatory drugs,
painkillers, corticosteroid injections and the prescription of doing regular exercises in
hopes of keeping the joints mobile and prevent them from seizing up and becoming
immobile
...
In some cases, sufferers may
also be required to undergo surgery, in which surgeons will either remove damaged
tissue, perform a joint replacement, or in cases of the spine, potentially fuse vertebrae as
a last resort
...
This can happen in episodes and be described as ‘on and off’
pains, being affected by external factors such as the physical activity of sufferers and
temperature changes
...
Other symptoms of the
disorder include tenderness of the joints, inflammation of the joints and feeling lumps
due to the spurs, an increase in joint pain and stiffness after prolonged periods of
inactivity, a grating or crackling sound when moving the affected joint, a limited range of
movement and weakness or muscle loss
...

The development of bony spurs known as osteophytes, these develop at the end of
bones and can offset joints and damaged cartilage
...
This can cause a lot
of pain when walking or attempting running, especially when moving against a gradient such as

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a hill or stairs
...
It is also not uncommon to hear the
aforementioned grating or clicking sound when moving the joint
...
These regular activities can often become
difficult and cause a great deal of pain
...
Being a ball
and socket joint, there is often a lot of movement involved in simple actions and any bony spurs
(osteophytes) that have developed can cause a great deal of pain, as well as the degradation of
cartilage in the joint causing a lot of friction between the convex and concave surfaces of the
joint
...
The
affected joints can become swollen and painful, often
with limited movement as the carpal tunnel ligaments of
the forearm are unable to flex due to the bone spurs
between the gliding joints of the palm
...

Over a period, the pain may decrease and cease to
cause much effect to sufferers
...

Affected joints can potentially move sideways as a result
of the condition and even develop painful cysts on the
back of the hand near the afflicted joint as synovial fluid
builds up and causes swelling
...
This can make tasks such as opening doors and turning keys
difficult and very painful
...
However, there are several treatments which can
aid with the pains and symptoms of the disorder, and there is no guarantee that it will get any
worse over time
...
These can be steroidal or nonsteroidal, dependent
on several factors such as age, height and health condition
● Supportive therapy, these are support groups and counsellors that help suffers from the
physiological effects the disease can have and ensure them that they are not alone
● Lifestyle changes, these would involve weight loss activities and diet changes, such as
stopping smoking and drinking, choosing healthier foods and doing some simple
exercises such as swimming and stretching
● In more extreme cases, surgery may be an option for patients in which they may have
their joints strengthened or replaced, and as a last resort for spinal issues they may
consider the fusion of the vertebrae
Painkillers for Osteoarthritis treatment
As aforementioned, the choice of painkillers given to a patient by their GP is dependent on a
number of factors, as well as the severity of pain being suffered
...
It is available at pharmacies over the counter without a
prescription, and it can be taken often throughout the day rather than when more intense pains
set in (providing patients follow their dosage allowances set individually for them, via their GP)
● Non-steroidal anti-inflammatory drugs (NSAIDs)
These painkillers are stronger than paracetamol and are prescribed by GPs for stronger pain
relief
...
Being either:
1
...
COX-2-inhibitors - they have a more commonly found name being coxibs
...
These are especially effective for home treatment of osteoarthritis in joints such as the
knees and hands and usually aid in the reduction of swelling in the joints
...

For example, NSAIDs can also come in pill form rather than topical, but these can be unsuitable
for sufferers of certain conditions such as those with heart issues, asthma, stroke sufferers and
those with a peptic ulcer or angina
...
This is done
in order to protect patients stomach lining as NSAIDs can break down the protective barrier and
cause the stomach acid to burn the lining as it is highly concentrated at PH2
...


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The alternative COX-2 drugs are known to have a less damaging effect to the stomach lining,
however, if taken regularly then it is often advised by GPs to take a PPI with it
...
They are very
strong and can sooth the intense pain
...

A common ingredient in opioids is codeine, along with paracetamol they form co-codamol
...
Other forms of the drug (which are
commonly prescribed for Osteoarthritis) include Tramadol, and dihydrocodeine, which are both
available in tablets as well as injections
...
While dihydrocodeine would not
be given to patients who also suffer from chronic obstructive pulmonary disease or ‘COPD’
...

● Capsaicin cream
In the event that topical NSAIDs have failed to treat the pains of osteoarthritis in the knees or
hands, a GP may prescribe a capsaicin cream
...
However, this is not instantaneous, and it can take up to 2 weeks to feel any
benefit, and if a month for the treatment to take full effect
...
Therefore, when the cream is applied patients must wash their hands immediately and
thoroughly after application (which should not be more than four times a day with a minimum of
four-hour intervals)
...
The injections are made directly to the
affected area, as well as possibly being given a local anaesthetic to numb the area as the
injections can be painful
...
If successful, then patients usually only receive 3 injections with a 3-6-month period
between them
...
PRP is blood plasma with a high concentration of healing platelets
which patients’ bodies can then use to repair damaged tissue
...


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● Transcutaneous electrical nerve stimulation
This treatment works through the application of electrodes to areas such as the span through
sticky patches
...

This is often organised by a patient’s physiotherapist, who is capable of advising upon the
strength and duration of treatment for various levels of pain
...
But in some patients, it can make a
difference in the pain felt in their joints and as a result, it may often be recommended by GP’s as
a simple form of self-treatment, especially when patients are, only just beginning to feel the
pains
...
The various exercises also promote
weight loss, which is beneficial to patients in order to reduce the stresses they put upon their
joints
...
Surgery can often prove highly effective after being operated on by a specialist
orthopaedic surgeon, and it can extensively improve the quality of life and relinquish sufferers
from their pain
...

As listed below, there are several forms of surgery that can take place:
Forms of surgery
● Arthroplasty
This is the technical name for joint replacement therapy, it is commonplace for the knees and
hips as these are heavy weight-bearing joints and therefore are often where osteoarthritis can
develop
...
These are
typically made of specific metals and plastics which rarely get attacked by the immune system
and are usually accepted by the body
...
However, amongst the number

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of sufferers, this is quite uncommon as the vast majority of sufferers of osteoarthritis tend to be
elderly
...
In which, only metal components are used and therefore the joint
lasts much longer since the ends of the bones are capped in metal
...
This is an incredibly
rare procedure and is only utilised after all other suitable forms of treatment have failed
...
It does make the joint much stronger
and reduces pain significantly, however it greatly limits movement
...
However, this is very uncommon
and is usually only used in the lower section of the spine as this area already had a very limited
amount of movement
...
In this, the surgeon removes a small section of bone from
either above or below the patient's knee
...
However, this is not a longterm fix and in the long run, patients may still have to undergo knee replacement therapy in the
future
...
This often fits all
patients and the strength of medication is dependent on the severity of their pain, although,
those of a very young age or elderly age as the medication may impact their lifestyle negatively
...

Forms of surgery are also appropriate for various situations
...
This is most appropriate for elderly sufferers as the artificial joints must be replaced
approximately every 20 years
...
On the other hand, a rare form of surgery such as arthrodesis may be
undertaken for joint fusion in areas such as the lumber region of the spine for a vertebral fusion,
although this would be inappropriate in most cases for young patients due to the effect on
mobility, but it may be suitable for elderly patients who are less active
...


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Scoliosis
Overview
Scoliosis is the musculoskeletal disorder in which there is a curvature of the spine (often an ‘S’
or ‘C’ shape)
...
However, it is unlikely to be corrected without medical treatment
(although in minor cases treatment isn’t always needed)
...
In doing so,
a radiologist can see the images of your spine and diagnose scoliosis, as well as informing
patients and their GP’s of the severity of the curve in their spine
...

Scoliosis Treatments
The chosen treatment for patients depends on a variety of factors, such as age, weight and
height, the severity of the curve and whether there is a likelihood of symptoms worsening over
time
...

Generally, younger patients such as babies and toddlers will not undergo surgery as the spine
will often correct itself as the child develops through age
...
Although, this can

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become very restrictive for children as it makes movement difficult and can be uncomfortable,
as well as needing regular replacements as the child grows
...
But, the most common approach is to have the child wear a brace until they
have stopped developing, and afterwards, they may then undergo surgery to correct the
curvature
...
However, they may be given painkillers such
as NSAIDs or even spinal injections to stop the pain in most minor cases
...

Causes of Scoliosis
Generally, the cause of scoliosis is unknown and therefore makes it very difficult to prevent
...
Therefore, this form of unknown
scoliosis is the most common and comes under the name idiopathic scoliosis
...
Although, there is some evidence
found in it being genetic due to cases of it running in a family
...

One of which is a degenerative issue much like Osteoarthritis, this form of scoliosis is often
seen in elderly sufferers and is therefore named appropriately as degenerative scoliosis
...
Another form is that of neuromuscular
scoliosis
...
Additionally, scoliosis can also be caused by a lack of development of
the spine during development in the womb, although the reason why is unknown
...

Congenital Scoliosis
Congenital meaning it is present from birth
...
The development of the disorder may begin as early as 6 weeks into
pregnancy
...
However, in minor cases, it may be missed until
birth, or even into childhood and teen years where it may first be discovered through X-rays
...
Alternatively, they may also undergo a CT scan (computed tomography)
...
Being beneficial in that the spine
develops at the same time as the heart and kidneys
...
(Statistically there is a 4:25
chance of a bladder or kidney disorder developing, and a 1:10 chance of a heart condition in
combination with congenital scoliosis
...

As the child grows, they will need to have more X-rays in order to monitor the progress of
treatment of the spine
...
These are changed with the aim of
correcting the spine slowly as the child develops
...
[7]
Adolescent idiopathic Scoliosis
Scoliosis is most commonly found and diagnosed during adolescence, where the spine may
curve and twist in a child around the ages of 10-18
...

If a child is suspected of scoliosis, then they are referred to have an X-Ray which will create an
image from top to bottom of the spine and show the curvature/twisting that may have taken
place
...

Adolescents tend to have a check-up via a specialist every 6 to 12 months, usually, treatment is
not needed unless the spine is observed to be curving more as monitoring goes on over time
...

They are commonplace in the treatment of children and teenagers in the hopes of preventing
the curve from growing worse while the adolescent grows
...
These are usually worn for around 18 hours a day after being fitted to the
child by a specialist brace maker known as an orthotist
...

In the case where non-surgical treatments are unlikely to work due to accelerated growth of the
curvature of the spine, surgery may need to take place
...
Both of these affects
everyday life for the patient significantly and must, therefore, be taken into consideration very
carefully
...
The other being De novo,
appearing in those who have not yet suffered from scoliosis but the wear and tear of the spine
and cartilage (facet joints and discs) through age can cause a pressure build-up between
vertebrae and lead to a curvature of the spine
...
However, if a patient has
osteoporosis in addition to scoliosis then surgery may not be possible due to the increased
fragility of the bones
...
At an older age, it is less common for
the fusion of vertebrae as older patients struggle to heal like younger ones, however, it is
sometimes used (especially in the lumbar region of the spine) to reduce pain, but it will restrict
movement noticeably
...
The bone graft will then be injected
into the area and over the coming 12 months will form a solid column of bone to aid the
correction of the spine, this then stays with the patient and it is rare for the metal components to
be removed afterwards
...
These neurological disorders are the result of damage to the central
nervous system from an injury or illness
...
In the
result of this happening, it is usually due to the trunk muscle aiding in the support of the spine
wearing away or become weaker, leaving the spine to collapse in a ‘C’ shape
...

As a result of its progressive and accelerated nature, braces are usually used to aid in
supporting the trunk muscles, and surgery is commonly required to aid the children (usually if
the pain is severe, the curve is over 50 degrees or if the curve is affecting breathing or regular
cardiac behaviour)
...
The same goal may also be achieved using a brace; however, parents often prefer casts
as they cannot be taken off and are a lot easier to get children to wear
...
Those who are elderly and suffer with scoliosis often
undergo surgery as well as being provided with bracing to support their lumber region, as well
as the majority of patients in all age group being provided with NSAID’s
...
Being degenerative, the symptoms worsen as a patient’s life goes on
...
Unfortunately,
there is no cure, but there are many treatments that can help to subdue the symptoms
...

Furthermore, due to its genetic nature families with a history of the disorder are often advised by
their GP’s to have their children checked for the disorder early on
...

Noticeable symptoms of Duchenne are often first seen between the ages of 1-3 and can often
be seen through a bulk of muscle around the thighs and pelvis of the child
...
As well
as finding it difficult to stand or incapable of climbing stairs without significant help
...

In later stages (usually around 12 years old) it is common for the patients to require a
wheelchair due to a lack of strength, disabling them from walking
...

In coming into early to mid-teens, many patients suffer from dilated cardiomyopathy
...
And when ageing

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further, those in their late teens to early 20s often develop additional issues, such as that of
damage to the intercostal muscles of the rib cage and diagram
...

● Myotonic dystrophy
A mild form of MD, it can develop at any age
...
Like the other forms of MD, it causes muscle deterioration and weakening, although it
often begins with smaller muscles such as those in the face, jaw and neck
...

However, those with a more severe form of myotonic dystrophy may suffer shortened lifespans
...
These symptoms include:
- Cataracts (cloudiness in the lens of a patient’s eye)
- Myotonia (stiffness of muscles)
- Exhaustion
- Difficulty in swallowing
- Behaviour and learning disabilities in younger patients
- Cardiac arrhythmia (an irregular and moderately low pulse rate)
These symptoms can develop as a result of the difficulty in passing electrical nerve impulses
throughout the body, such as not passing through the heart correctly and therefore causing an
abnormal rhythm (cardiac arrhythmia)
...
Although, for the majority of
minor cases life expectancy is unlikely to be affected significantly if it all
...
It is often degenerative and progresses
slowly, but it is unlikely to be fatal
...

However, there are some common warning signs as to whether a child may have the disorder
and require a medical diagnosis
...
Additional
signs can be seen in teenagers, such as thin upper arms or noticeably rounded or arched
shoulders
● Becker MD
This form of muscular dystrophy is similar to Duchenne MD, but it develops later in childhood
rather than earlier and is often less severe; meaning it is less likely to be fatal and therefore life
expectancy is unlikely to be affected to the same degree as seen with Duchenne
...
It mainly affects the muscles in the eyes
and throat, causing difficulty in vision and swallowing
...
As a result, vision can become minimal and its common to
develop double vision as a result of the weakened eyelids
...

● Emery-Dreifuss MD
Develops during childhood or early adulthood, it tends to be a slow but dangerous form which
causes most sufferers to pass at middle age or shortly after
...
Due to this, movement
is heavily restricted in affected areas as joint movement is heavily dependent on the movement
of tendons as a result of muscle contractions (use of antagonistic pairs)
...
This is resultant in
difficulty of turning the head, standing or running etc
...
This is also true even in
early stages
...
All of which is
evident even in the early stages of development
...

Moreover, much like myotonic dystrophy, some patients may develop cardiac arrhythmia
...

Causes of Muscular Dystrophy
MD is a form of musculoskeletal disorder which is thought to be caused due to a genetic
alteration which would be inherited from one or both parents of a sufferer
...

The different forms of MD are caused by alterations to different parts of a patient’s genetic
code, and while some are yet to be fully understood, those who inherit the disease either do so
from a single or dual dominant gene or recessive inherited pair or a sex-linked gene to the X
gene
...


26

Oliver King

Diagnosis of Muscular Dystrophy
Generally, the way in which MD is diagnosed varies for its many forms
...
This then
continues to a physical examination with the GP, and then some blood tests
...

Treatment of muscular dystrophy
So far into the study of MD, there is no known cure against the disorder
...
This includes treatments such as mobility assistance such as crutches or wheelchairs,
physiotherapy to aid with movement of the joints, and exercise to minimise the wastage of
muscular tissue
...
In addition, doctors may also prescribe the use of steroids to minimise
muscle loss and improve strength, as well as (in the case of damage to cardiac tissue) the use
of beta-blockers or ACE inhibitors to treat the concerns met
...
This, therefore, limits the oxygen which
reaches the skeletal muscles in combination with their progressive weakening due to MD
...
These include methods
such as low impact exercises such as swimming, as this puts minimal stress on the joints while
exercising the muscles and training the respiratory system, strengthening them against the
disorder
...
[12]
Strengths

Easily accessible to a wide number of patients in urban areas

Weaknesses

Only a short-term solution, can be very painful for some (especially elderly)

Effectiveness

It has been shown to be effective in aiding symptoms and improving quality of
life

Limitations

Patients must be local to a pool or physiotherapy practice

- Corticosteroid medication
Steroid medication is commonly used as a treatment for Duchenne muscular dystrophy as it has
been shown to improve the strength of muscles and their function, as well as slowing down the
process of weakening which is resultant of the MD
...
However,
27

Oliver King

excessive use of steroids has significant side effects as seen in the sports industry with cardiac
enlargement and failure as well as affecting personality, and in medical studies, it was
associated with excessive weight gain and accelerated hair growth
...
Dependent on
the severity of a patient’s symptoms, their GP may refer them to a dietician who will aid the
patients in learning about which foods are easier to swallow and help in ensuring their food is of
an easy consistency to swallow
...
In doing so, they may train them with several exercises and movements in order to
train these muscles and ease swallowing
...
In this case, it may involve removing
a small muscle from the throat or inflating a balloon in the oesophagus in order to ease
swallowing and reduce pain
...

Strengths

Allows for dietary change and improvement in day-to-day life, use of simple
exercises, reduces pain

Weaknesses

Younger people (especially teens) may be embarrassed by a gastromy

Effectiveness

In many cases, it may ease the pain, but it is not always effective

Limitations

Some may not want a gastromy, therapy can prove ineffective

- Cardiac Complications
Many forms of MD cause weakness and damage in the cardiac tissue of the heart
...
In order
to monitor this, patient’s must be regularly examined and undergo an electrocardiogram and an

28

Oliver King

occasional echocardiogram
...

Dependent on the form of MD and the cardiac issue at hand (arrhythmia, dysrhythmia), patients
may be given medication such as ACE inhibitors or beta-blockers to aid in the correction of
irregular or slow rhythms
...
[12]
Strengths

Can save lives, pills are easy to take day-to-day

Weaknesses

Requires constant checks, intrudes on patients’ lives,

Effectiveness

Very effective with a pacemaker, if pills are taken irregularly or forgotten they
are ineffective

Limitations

Some may struggle with pills is suffering from swelling, pacemakers are a big
decision that many are unsure of

- Corrective/ Preventative Surgery
In severe cases of muscular dystrophy, some surgery’s may be required to combat the effects
of the disorder and those caused as a result of it
...
Therefore, corrective or preventive
spinal surgery from a Scoliosis specialist may take place in order to prevent the curve from
growing
...
[12]
Strengths

Can help prevent other disorders such as scoliosis, may help patient
confidence and ability in movement

Weaknesses

Surgery may not always succeed or may only push back the on take of a
disorder

Effectiveness

May greatly reduce the chances of a disorder or aid in the vision and lifestyle
of patients

Limitations

Won’t always prevent or fully remove a disorder, can be a very difficult
decision, especially for the parents of young children
...
It causes weakness and
degeneration of the muscles much like muscular dystrophy, it is progressive over time and is
consistently fatal in those who suffer from the disorder
...
It
is the result of the motor neurons of the brain failing over time and being unable to send
impulses, however, the reason for this failure is currently unknown
...
These symptoms may consist of
weakness in the legs or ankles (due to the weakening of the calf and thigh muscles which are
responsible for leg and ankle movements), with many struggling to climb stairs and some to
walk or even stand
...
This may culminate with a weak grip, common muscle cramps and twitching,
significantly progressive weight loss (especially noticeable in the arms and legs due to the lack
of use of the type 2b muscles), and behavioural challenges such as uncontrollable crying or
laughing in inappropriate situations
...
This is especially true as many of the symptoms are like that of
other disorders (such as a weakness in muscles being attributed to muscular dystrophy)
...
These include the use of
blood tests, an MRI of the brain and spinal column, testing of the electrical nerve impulses of the
brain, and lumbar punctures to test the fluid of the spine
...
[13]
Treatment
Currently, there is no cure for motor neurones disease
...
This could include having
the patient being taken care of by specialist nurses and an occupational therapist at a
specialised clinic in order to help the sufferer day to day
...
In addition, medication to

30

Oliver King

decrease the stiffness of the muscles and aid swallowing may also be provided, as well as the
drug riluzole to slow down the progression of symptoms caused by MND
...
Items such as
wheelchairs and such are often facilitated for patients, as well as being provided with specialist
care and nursing
...
Changes to diet and regular therapy can
greatly slow the progression of the disease, and this is suitable for almost all cases
...
lubopitko-bg
...
jpg
Fig [2] https://opentextbc
...
sciencedirect
...
medicalartlibrary
...
open
...
edu/aandp/chapter/7-1-divisions-of-the-skeletal-system/
Fig [6] https://courses
...
com/wm-biology2/chapter/types-of-synovial-joints/
Fig [7] https://courses
...
com/suny-mcc-ap1/chapter/naming-skeletal-muscles/
Fig [8] http://www
...
com/anatomy/sliding_filament
...
assh
...
nhs
...
innerbody
...
html - Author Tim Taylor, Anatomy and
Physiology Instructor - Date Unknown
[2] https://slideplayer
...
innerbody
...
myvmc
...
innerbody
...
html - Author Tim Taylor, Anatomy and
Physiology Instructor - Date Unknown
[6] http://www
...
com/image_skel13/ligm27
...
sauk
...
uk/information-sheets/congenital-scoliosis-information-sheet
[8] https://www
...
org
...
sauk
...
uk/information-sheets/adolescent-idiopathic-scoliosis-information-sheet
[10] https://www
...
org
...
sauk
...
uk/types-of-scoliosis/neuromuscular-scoliosis
[12] https://www
...
uk/conditions/muscular-dystrophy/treatment/ - Author NHS - Date Page
last reviewed: 24/05/2018 Next review due: 24/05/2021
[13] https://www
...
uk/conditions/motor-neurone-disease/ - Author NHS - Date Page last
reviewed: 12/01/2018 Next review due: 12/01/2021
[14] https://www
...
uk/conditions/osteoarthritis/ - Author NHS - Date Page last reviewed:
12/01/2018 Next review due: 12/01/2021
[15] Pearson BTEC National Applied Science Student Book 1 – Authors: Annets, Hartley,
Hocking, Llewellyn, Meunier, Parmar and Peers
...
” - Claire Curley - Director of SAUK - Each source is

32

Oliver King

Edition: 2, Reviewed: December 2015, Planned date of Review: December 2018, Date of Issue:
Jan 2016

33



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