Neuromuscular Disorders are a serious cause of chronic disability among children. They include muscular dystrophies, congenital myopathies as well as inflammatory and degenerative disorders of nerve and muscle. Although individually uncommon, these conditions in total are responsible for a substantial proportion of children with chronic handicaps.
The Neurogenetics Clinic
The Clinical Neuromuscular Service was established in early 1996 and now provides specialised care to over 300 families affected by a variety of inherited disorders of muscle and nerve.
Children with neuromuscular disorders require input from many medical disciplines and allied health professionals. The Neuromuscular Service already utilises (through dedicated clinic attendance) the expertise of two clinical geneticists, two neurologists, a rehabilitation physician, a genetic counsellor, a social worker, an occupational therapist and a physiotherapist. Many other subspecialists (e.g. orthopaedic surgeons, neurosurgeons) also see a significant number of patients in consultation. The clinical service also provides a rich and varied educational experience for medical and allied health trainees.
The Neuromuscular Service also conducts multidisciplinary clinics for the practical management of children with neuromuscular disorders. Attended by Clinical Geneticists/Neurologists, a Rehabilitation Specialist, physiotherapist, occupational therapist, social worker and a podiatrist (for children with peripheral neuropathies), this clinic provides an opportunity for parents, team members and community therapists to develop effective strategies to alleviate difficulties of daily living.
Disorders commonly seen include Duchenne and Becker muscular dystrophy, spinal muscular atrophy, peripheral neuropathies, myasthenic syndromes and neurodegenerative disorders with a neuromuscular component (e.g. metabolic myopathies, Friedreich’s ataxia, leukodystrophies). All of these disorders are associated with significant muscle weakness or dysfunction, which limits mobility and many activities of daily living.