Muscular dystrophy is a term that describes a group of inherited muscle diseases that cause muscle weakness. The symptoms get worse
over time, and can make walking difficult.
What Is Muscular Dystrophy?
Our genes contain the code for all of our cells and tissues. In muscular dystrophy, a mutation in one of our genes leads to a protein that
is required by all muscle cells to work properly not being made correctly. This results in damaged muscle fibres and muscle weakness, which
bring a range of challenges for the feet and legs when it comes to movement, balance, coordination and everyday life.
As different genes and proteins can be affected, there are many different types of muscular dystrophy, with this term being used to describe
genetic muscle weakness in general. The difference between these types is typically the areas of the body that are affected, and how quickly
the symptoms begin and then progress.
Common types of muscular dystrophy include:
Duchenne Muscular Dystrophy (DMD): DMD is the most common muscular dystrophy, and it affects as many as 1 out of every
3,600 male babies born. The symptoms include a difficulty in walking and doing everyday activities which gets worse over time. These signs
tend to appear before a child turns 6 years old, and sometimes appear in babies - they may be slower in reaching milestones such as sitting
Becker Muscular Dystrophy (BMD): BMD is generally known as a milder form of muscular dystrophy. Both conditions are caused
by the same genetic mutation and have very similar symptoms, however BMD tends to appear later and progress more slowly.
Manifesting Carriers: Normally, BMD and DMD only affect males, but a manifesting carrier is a female who has the symptoms
such as muscular weakness, as males do. This can happen even with no known family history of BMD or DMD, so we recommend that all females
who seem to have any form of muscular dystrophy be tested to check if they are a manifesting carrier.
Congenital Muscular Dystrophy (CMD): CMD is rare, and it only affects around 1 in 50,000 male and female babies, who are
both equally likely to develop it. CMD can cause muscle weakness in early infancy, within the first six months of a baby’s life.
Emery-Dreifuss Muscular Dystrophy (EDMD): EDMD also affects both males and females, and it affects skeletal muscles that
are used for movement, as well heart muscles. Symptoms may include joint deformities, or contractures, which make it difficult to move
certain joints, beyond a certain range of motion, including the elbows, ankles and neck.
Facioscapulohumeral Dystrophy (FSH): FSH is the third most common muscular dystrophy, and it typically affects the muscles
in the face, shoulder blades and upper arms.
Limb Girdle Muscular Dystrophy (LGMD): LGMD affects males and females and it can appear in early childhood, adolescence or
adulthood. It affects the muscles in the hip and shoulder areas which can weaken and waste away, or atrophy over time, and it may involve
other muscles as well.
Myotonic Dystrophy: This is a rare condition that affects voluntary muscles as well as a wide range of different tissues
and organs throughout the body, and both males and females are equally impacted.
Oculopharyngeal Muscular Dystrophy (OPMD): OPMD is a genetic condition that doesn’t show symptoms until middle age.
This can include drooping of the eyelids, weak muscles around the eyes, and difficulties with swallowing food.
Symptoms Of Muscular Dystrophy
The primary symptom of muscular dystrophy is muscle weakness, which will vary in severity depending on a person’s age and what type of
muscular dystrophy they have. Other symptoms can include muscle wasting, muscle contracture, aches and pains in the muscles, and
hypertrophy, where the mass of the muscles increases, despite them still not being able to work as well. As a result, some of the signs we
see in our clinic include:
- Regular tripping and falling falls
- Foot drop
- Difficulty rising from a lying or sitting position
- Trouble running and jumping
- Waddling gait
- Walking on the toes
- Large calf muscles
- Muscle pain and stiffness
- Skin and nail problems like corns and calluses from altered gait positions
What Causes Muscular Dystrophy
The affected gene responsible for muscular dystrophy is most often inherited from our parents and passed down through families. A
spontaneous gene mutation may also occur, resulting in a faulty gene.
Muscular dystrophy is usually diagnosed in early life after the presentation of initial symptoms. Aside from the clinical signs of muscle
weakness, gait abnormalities, and in many cases failing to meet typical developmental milestones, blood tests are often run to check for
enzyme levels as damaged muscles release a specific kind of enzyme called creatine kinase (CK) into your blood. Where more information is
required, such as when there is no family history of muscular dystrophy, gene testing or a muscle biopsy may be performed.
How To Treat Muscular Dystrophy
As muscular dystrophy is not curable, treatment is focused on managing the symptoms affecting the feet and legs. This will look different
for every person as it depends entirely on the type of muscular dystrophy they have, which areas have been affected, and the severity of
their current symptoms. This may involve:
Surestep SMO: the Surestep supramalleolar orthoses (SMO) is a revolutionary treatment for children with low muscle tone as a
result of Down syndrome. Together with the right Surestep footwear, it sets children up for success and enables them to have a new level of
mobility and independence.
MLS laser: MLS laser is a proven, painless and safe treatment that is shown to
help with muscular contractions that can be detrimental to the quality of life of those with muscular dystrophy. This leaves the
potential of reduced muscle fatigue and improved mobility and independence.
- Stretching program to help improve mobility in tight, contracted muscles
Ankle foot orthotics (AFO’s) or custom braces to help maintain a good alignment of the foot and
ankle, promote stability and mobility, and help to delay further muscle contractures. We prescribe innovative, custom-designed braces like
the Exo-Brace to help with foot drop and ankle stability.
Foot mobilisation to work on stiff joints to help improve joint alignment, release tension and help the feet and legs
function more efficiently
Custom foot orthotics to help support the feet, improve stability, promote
gait and accommodate any foot deformities inside the shoe
- Night splints to help if an ankle equinus is present, where the foot is unable to bend upwards at the ankle joint
Footwear modifications to best accommodate your current symptoms
and improve stability and comfort in your existing shoes
Skin and nail care to manage any painful skin or nail conditions like
corns, calluses and ingrown toenails that may arise from an altered gait pattern
- In some cases, a surgical release of the muscle contracture may be recommended to maintain ability to walk
Do you treat all types of muscular dystrophy?
Yes. As we treat the symptoms of muscular dystrophy and address the way that it’s affecting your ability to walk and lead a
comfortable life, we will apply similar care principles to manage your symptoms regardless of the type that you’ve been diagnosed
with. Treating MD requires a tailored and unique approach, which our podiatrists deliver for every person.
I’m worried my child has muscular dystrophy, what signs should I be looking out for?
The first signs of weakness are usually delayed onset of walking, difficulty in performing a standing jump, a waddling gait and difficulty
in rising from the floor.
Is muscular dystrophy always detected in childhood?
No. Some types of MD present in later adolescents, and some may have very mild symptoms and then a very slow progression. This means that
adults can enter their 20’s without a formal diagnosis. If you’re worried about MD at any age, we’re here to help.
Are you a registered NDIS provider?
Absolutely. Under NDIS we can offer you a range of devices such as custom foot orthotics, AFOs and custom braces under the assistive
technology support. For many people, this greatly improves their mobility, independence and quality of life.