Muscular dystrophy (MD) is a group of more than 30 genetic diseases that cause progressive weakness and loss of muscle mass. Muscle-wasting conditions are very rare, affecting just over one in every 1,000 people.

Some of the most common types appear in infancy but others don’t surface until middle age or later. The most commonly known Duchenne MD affects only males but others affect males and females equally.

There is currently no cure for muscular dystrophy but medications and therapy can help to slow and manage the course of the disease.

Symptoms Of Muscular Dystrophy.

The main symptom is progressive muscle weakness. But specific signs and symptoms will depend upon what type of MD the person is diagnosed with. These symptoms will also begin at different ages and in different muscle groups.

In a child they will follow the normal pattern of development. But in time may develop problems with movement. For example they could start to stumble, waddle, have difficulty climbing stairs, and struggle to sit or push things. These children often develop enlarged calf muscle as the tissue is destroyed and replaced by fat.

The most common form Duchenne MD (males only) may start to show difficulty walking between 1 and 3 years old. These children eventually losing the ability to walk by 8 or 11.

How Is MD Diagnosed?

Genetic testing and a muscle biopsy can be used to determine the type of MD. These can only be carried out in specialist hospitals that have the correct facilities to do biopsies of high enough quality to give reliable results.

If you notice any symptoms in your child please see your GP. Or if it is noticed at developmental check-ups you will be referred to a specialist for further checks. The specialist will start with a medical history and physical examination.

After that the doctor may recommend a series of tests:

1. Enzyme tests.
2. Electromyography: To measure the electrical activity of muscle as you relax and tighten muscle.
3. Genetic testing.
4. Muscle biopsy.
5. Heart-monitoring tests (electrocardiography and echocardiogram).
6. Lung-monitoring tests.

Some Types of MD

Duchenne MD: The most common type in males. Although females may be genetic carriers and can be mildly affected. Common signs are: frequent falls, difficulty sitting, jumping or running, enlarged calf muscles, muscle stiffness and learning difficulties.

Becker MD: The symptoms tend not to appear until teens or mid 20’s or even later. Symptoms are similar to Duchenne MD. But may be milder and progress more slowly.

Myotonic MD (Steinert’s disease): Characterized by an inability to relax muscles at will following contractions. This type of MD is the most common form in adults. Its affects facial and neck muscles first.

Facioscapulohumeral (FSHD): May appear in childhood but may not appear until age 40. Symptoms often begin in face and shoulder. With the shoulder blades sticking out like chicken wings when the person raises their arms.

Congenital MD: Affects both males and females and is present at birth or before the age of 2. It may be slow in progression and cause mild disability. But other forms are rapid and are severely impairing.

Limb-girdle MD: This type of MD is seen in childhood or teen years affected hip and shoulder muscles first. Symptoms can include a difficulty lifting front part of foot and tripping frequently.

For information on other types of MD and support (see below also) can be found on the Muscular Dystrophy Ireland Website http://www.mdi.ie/

The Causes Of MD

Each type of MD is caused by a genetic mutation particular to that disease. These genes are involved in making proteins that protect muscle fibres from damage. People with a family history of MD are at a higher risk of passing on the gene to their children.

Complications From MD

The complications of progressive muscle weakness include:

1. Trouble walking.
2. Shortening of muscles or tendons around joints (contractures).
3. Breathing problems.
4. Curved spine (scoliosis).
5. Heart problems.
6. Swallowing problems.

Treatment Of MD

There’s no cure for any form of muscular dystrophy. But treatment can help prevent, slow or reduce problems to help children and adults remain mobile as long as possible.

Treatment options include medications, physical therapy, occupational therapy, speech therapy, orthopaedic devices, and corrective orthopaedic surgical procedures.

Caring For a Child With MD

Having your child diagnosed with a disability of any kind can be extremely challenging. But you need to talk to someone about how you feel. Finding support from family, friends and a support group is vital.

It is not uncommon to develop feelings of guilt and anger, pain and loss, when your child has a disability. We tend to blame ourselves for everything that has happened. As well as for everything our child may be losing out on, etc.

Please stop. This isn’t helping you, your mental health or your child. Your child will pick up on this. It is better to be proactive and ask for help if you are feeling like this. You aren’t alone here there are wonderful support groups available online and in person. You can read more about helping yourself as a parent of a disabled child in my blog here.

Learn all you can about your child’s MD. Ask your doctor and specialist about your child’s condition. If there is a support nurse in the hospital ask to speak with them so you can be the best prepared for any treatments your child might need in the future.

The team of healthcare professionals will work with you to come up with a treatment plan that meets your, or your child’s, needs. It is very important for you and your child that you are included in this treatment plan and as your child grows that they are included also.

Besides learning all you can you also need to understand and get information about supports, aids and appliances, welfare issues, etc. In Ireland, Muscular Dystrophy Ireland have Family Support Workers (FSW’s). They can help you with getting information including knowing your rights and entitlements. Plus help liaise with health care professionals, teachers, and social welfare, etc. They can also assist you in accessing services and provide support meetings. To contact this service please contact their head office (01) 6236414 or email info@mdi.ie

Assessment of Need in Ireland

In Ireland, parents of any child born after 1st June 2002 may apply to the HSE for an Assessment of Need under the Disability Act. If they think that their child may have a disability. Your first point of contact is your local Assessment Officer who is responsible for your child’s assessment.

Each Local Health Office has an Assessment Officer. They can assist you with your child’s application and help support you through the process. The Assessment Officer is responsible for issuing your child’s assessment report.

Applications must be made in writing on a standard form which is available from your Local Health Office. Call the HSE information line 1850 24 1850 or check out www.hse.ie for a list of Local Health Officers in Ireland.

Your child’s assessment must start within 3 months from when the completed application form is accepted by the HSE. It must be completed within a further 3 months from the date on which the assessment commenced.

Children with disabilities are also covered under the Education Act 1998 and the EPSEN Act 2004. As well as anyother disability acts that are enforce in Ireland.

Work With Me.

Remember you are allowed to ask for support. No one is an island. If you need extra support then you can also work with me. We all struggle with stress and overwhelm from time to time. If you find this has become a problem for you and you’d like some support then schedule an appointment with me.

Other Useful Links

Duchenne Family Support Group https://www.dfsg.org.uk/

Centre for Independent Living Ireland https://dublincil.org/

Disability Federation Of Ireland https://www.disability-federation.ie/

Enable Ireland https://www.enableireland.ie/

Muscular Dystrophy UK https://www.musculardystrophyuk.org/

Muscular Dystrophy Association USA https://www.mda.org/

Muscular Dystrophy Association Australia https://www.mda.org.au/