“Neuromuscular disorders can’t be avoided in the way that other lifestyle diseases might be, but genetic testing and counselling could assist when planning a family,” says Dr Anri Human, a lecturer in UP’s Department of Physiotherapy, who provides a comprehensive evaluation of neuromuscular disorders in light of Muscular Dystrophy Awareness Month, which is observed annually in September.

Neuromuscular disorders (NMDs) can be defined as a group of conditions that include pathology or abnormalities of the muscle, neuromuscular junction, peripheral nerves and motor neurons. One out of 3 500 individuals can present with a disabling NMD that can present in childhood or at a later stage in life.

The cause of NMD is primarily genetic in origin and might be inherited from one parent or both, or in some cases, the result of a spontaneous mutation (genetic defect/abnormality). This means that a child might be born with NMD even though neither of their parents are carriers of an abnormal gene.

The most common types of NMD observed among children is Duchenne muscular dystrophy (DMD) and spinal muscular atrophy (SMA) where there is a lack of a special protein in the muscle and spinal cord/brain respectively caused by the defective gene. Because DMD is caused by an abnormality in the X chromosome (females have two X chromosomes; males have an X and a Y chromosome), the condition is seen among boys, although the mother might be a carrier of a defective X chromosome.

Other types of NMD can present equally in boys and/or girls, while some conditions might have a later onset and only present during adolescence and adulthood (as Becker muscular dystrophy, myotonic muscular dystrophy or amyotrophic lateral sclerosis, among others).

Therefore, NMD cannot be avoided in the way that other lifestyle diseases (like heart conditions or diabetes) or communicable diseases (like TB or flu) might be. But genetic testing and counselling could assist when planning a family.

People with NMD usually present with progressive muscle weakness and wasting (atrophy), implying that they will become weaker as they grow older (or the disorder progresses) and may lose the ability to walk. Respiratory infections such as bronchitis or pneumonia are also common as their breathing muscles become weaker, which affects their ability to take deep breaths and to cough. Other signs and symptoms to observe in children include having difficulty rising from the floor (Gower’s signs), developmental delays (not developing and growing as their peers), frequent falls (clumsiness), decreased balance, a waddling gait, muscle cramping and weakness, decreased endurance (getting tired easily), enlarged calf muscles (pseudohypertrophy) and frequent respiratory infections.

Testing includes taking a family history and asking about a child/person’s clinical presentation (signs and symptoms), growth and development. Further testing to confirm the diagnosis may include blood tests (such as enzyme testing/creatine kinase and genetic testing), to determine the presence of a genetic mutation/abnormality; a muscle biopsy, to determine if there is an abnormality in the muscle fibre; an MRI, to view the quality of the muscles and determine if there are fatty deposits or fibrosis; an EMG, to determine muscle contraction/function; an ECG and/or cardiac ultrasound, to determine cardiac abnormalities; and lung function testing, to determine lung volumes and flows.

There is currently no cure for NMD, but various management strategies are available to assist people living with NMD to be more functional/independent, minimise their functional and systemic regression, and improve their health-related quality of life. Regular follow-up visits (at least once a year) with a neurologist/paediatrician and healthcare team are advised.

Some management strategies include medication such as cortisone and supplements; physiotherapy, biokinetics and occupational therapy (for functional ability, transfers, an exercise programme, hydrotherapy, splints and prescribing relevant mobility aids like a walking frame or wheelchair); consulting dieticians (to create a balanced diet) and speech therapists if there are problems with speaking and/or swallowing due to muscle weakness and control.

Orthopaedic devices can alleviate some of the discomfort experienced (such as ankle and back braces), while a standing frame (once ambulation is lost) also has numerous benefits. Social workers, educational psychologists and community workers can provide support, counselling and advice for people with NMD and their families. If breathing and coughing becomes a problem, assisted breathing, coughing techniques and devices such as an ambubag and BiPAP machine can alleviate symptoms and prevent respiratory complications. In severe cases, surgery like tendon releases and scoliosis correction might be required.

If NMD is left untreated, the progression of disease and loss of function might occur faster than in those children/patients that start early with management. If not well managed, secondary complications can develop such as contractures, scoliosis and/or kyphosis, respiratory and cardiac complications, aspiration and undernutrition (if feeding/swallowing problems exist)

If you are concerned that your child or loved one might be presenting with an NMD, contact your GP, paediatrician or neurologist. They will prescribe the necessary tests and refer you to other healthcare professionals as required. To get in touch with professionals that specialise in the field of NMD, contact the Muscular Dystrophy Foundation (MDF) of South Africa. The foundation’s mission is to improve the quality of life of people affected with NMD by offering comprehensive medical information and regular news updates; providing referrals to neurologists, professional counsellors and specialised health services; assisting with specialised disability equipment (if funds are available); facilitating contact to support groups; and providing emotional support and integration into mainstream society.

If you would like to get involved in raising awareness, volunteering, raising funds or making a donation, or offering your skills to assist people with NMD, contact Gerda Brown, general manager at the MDF ([email protected]), or Robert Scott, business development manager at the MDF ([email protected]).