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Snapshot for Muscular Dystrophy
This Disability Snapshot provides general information about muscular dystrophy and neuromuscular disorders to assist you in communicating effectively and supporting the participant. Each person living with muscular dystrophy is an individual and will have their own needs, preferences and experiences. This information has been prepared for NDIA staff and partners and is not intended for external distribution.
Peak body consulted
In developing this resource, we consulted with Muscular Dystrophy Australia.
What is muscular dystrophy?
Muscular dystrophy is a type of neuromuscular disorder classified by the breakdown of muscle fibres leading to progressive and irreversible degeneration of muscles. Symptoms of types of the disorder appear at birth or in young babies, but in other cases the symptoms may only start to show in childhood or even in adulthood. Some types of muscular dystrophy can lead to significant impairment and impact on life expectancy, while other types can be much milder.
Around one in every 625 individuals will be affected with a muscular dystrophy during their lifetime. There are over 60 separate and distinct types of neuromuscular disorders, each with their own unique symptoms, treatments and prognosis. There is no cure for any type of muscular dystrophy.
Neuromuscular disorders are classified into four groups:
muscular dystrophies spinal muscular atrophies motor neurone disease peripheral (affecting feet and hands) neuropathies.
This snapshot focuses mainly on muscular dystrophy.
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Common characteristics
The common characteristic in all neuromuscular disorders is progressive and irreversible muscle deterioration which has a significant effect on people’s lives. There are varying differences in symptoms between the disorders. Among the muscular dystrophy community, there are people with different degrees of independence, mobility and carer needs.
One of the most important things to remember is that the condition is progressive, which means that a person’s needs may change over time. Plans may need to be reassessed often and there may be frequent changes in functional capacity.
Some people with high support needs may need support with:
breathing via ventilators or cough machines personal care such as getting out of bed using a hoist or support for showering and
toileting.
More information about common muscular dystrophies can be found in the table below.
Common muscular Age of Symptoms Progression dystrophies onset Duchenne 2-6 years General muscle Slowly, yet eventually involves all weakness and voluntary muscles including lungs. A wasting, affecting wheelchair is required by about age 8 pelvis, upper arms to 11 years and upper legs first Becker 2-16 years Almost identical to Affects pelvis, upper arms and upper Duchenne yet less legs. Becker progresses more slowly severe than Duchenne. Facioscapulohumeral Teens to Muscles of the face, Slowly with periods of rapid early shoulder blades deterioration, disease may span adulthood. and upper arms are many decades There is among the most also an affected but other infantile- muscles are usually onset form affected Limb-girdle Late Weakness and There are more than 20 different childhood wasting, affecting subtypes – some progress to loss of to middle muscles around walking ability within a few years and age shoulders and hips cause serious disability, while others first progress very slowly over many years and cause minimal disability.
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Life expectancy for people with muscular dystrophy can vary, particularly if they experience other non-related conditions.
How is muscular dystrophy diagnosed?
Diagnosis usually starts with a visit to a general practitioner (GP). A parent might notice their child falling over more than his or her friends, or an adult finds they can no longer walk very far without tiring. The GP may carry out initial tests but these conditions are often difficult to diagnose and the individual will usually be referred to a specialist – typically a neurologist. The specialist will use different tools and tests to reach a clinical diagnosis that best explains the symptoms and test results.
Tests may include:
muscle biopsy genetic testing electromyography blood tests.
Language and terminology
You should use language which reflects the person first such as ‘person with a neuromuscular disorder’, or ‘person living with muscular dystrophy’.
Some of the language used to talk about the common characteristics of neuromuscular disorders is further explained below:
Neuropathies: damage, disease, or dysfunction of one or more nerves especially of
the peripheral nervous system. This is typically marked by burning or shooting pain,
numbness, tingling, or muscle weakness or atrophy (often degenerative). Muscle wasting: weakening, shrinking, and loss of muscle. Myotonic disorders or ‘Myotonia’: the inability to relax muscles following contraction. Myotonic dystrophy can also affect many other tissues and organs in the body.
Enabling social and economic participation
When assessing Assistive Technology (AT) or Capacity Building (CB) support needs, the same priority needs to be given to work and outside work activities. Not everyone living with muscular dystrophy is able to work, and everyone has a right to the best quality of life. When you are considering AT needs for work purposes, you should always explore mainstream services such as the Employee Assistance Fund (EAF).
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Depending on the type of muscular dystrophy and its stage, patients might benefit from different types of AT, including:
adapted devices for using a computer, phone, or appliances, including head
pointers, a switch adapted mouse, sip-and-puff switches, and mouth sticks. software for alternate access such as voice recognition and auto-type software eye gaze systems such as an eye-tracking device of specialised computer input
device environmental control software such as smart switches and bulbs, and automated
thermostats.
CB supports for people living with muscular dystrophies, depending on the type and stage, could include:
disability related respiratory supports speech therapy occupational therapy support coordination.
Families and carers
Families provide different levels of support to a person with muscular dystrophy, and usually play an active role in a range of supports including:
assisting with daily living tasks advocating for inclusion supporting the participant to find employment.
Families usually have a good understanding of the support the person needs to participate in the community and work towards independence. Some family members may find it confronting to consider the impact of further deterioration of their loved one’s condition over time and may need support to think about future support needs.
While families are usually happy to provide support, it can affect their own employment, ability to meet the needs of other family members, and their own needs and health. This will increase especially as they age. It is unreasonable to expect a family to be the main source of support for an adult living with muscular dystrophy. It is important to consider, for children and adults, whether the level of informal support being provided is sustainable and what supports might be included in the plan that result in a break for carers.
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Funded support including respite, support to access the community and personal care in the home can offer relief from family and carer stress.
How can I tailor a meeting to suit a participant with muscular dystrophy?
It’s important to think about how people living with muscular dystrophy can be supported to be included in education, employment, and community and mainstream activities alongside their peers.
Some people, particularly those with later onset conditions, may have been living with symptoms for years while struggling to receive a diagnosis. The relative rarity of some forms of muscular dystrophy means it can be hard to find a specialist who can confidently diagnose the condition and predict its likely progression. For these individuals, thinking about what supports they might require in the future may be more difficult.
Specific issues to be considered:
helping the individual consider not just their current capacity in the ‘here and now’,
but also likely progression of their condition over the length of the plan consideration of transport modifications and technology to maintain schooling,
employment, interests, and activities of everyday life whether physiotherapy is appropriate, either at home under the guidance of a physio
or at an external venue adaptions needed to the home environment to access wheelchairs, hoists, or
walking supports consideration of suitability of formal and informal carer supports consideration that the person’s condition will change over time, meaning that plans
may need to be reassessed regularly and the participant may need an unscheduled
review.
What people with muscular dystrophy want you to remember
Each case is different and will have different requirements.
Make yourself familiar with each condition by referring to this snapshot and other resources, but also consider each individual’s needs.
Muscular dystrophies are progressive disorders, which means the participant’s functional impairment will require regular reassessment.
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Helpful links
Muscular Dystrophy Australia (MDA) MDA Peripheral Disorders MDA Spinal Muscular Atrophy MDA Duchenne Muscular Dystrophy MDA Becker Muscular Dystrophy
Version control
Version Amended Brief Description of Change Status Date by
1.0 ZWECKM Initial Version APPROVED 2020-07-08
Class 3 Approved
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