NEUROMUSCULAR & NEUROGENETICS

Care of the patient with a Neuromuscular & Neurogenetics Condition

These generally rare conditions require management that involves consideration for evolving diagnostics, supportive therapies and multidisciplinary care, as well as education on both established and emerging disease-modifying treatments, and possible involvement in research.

Conditions include:

Neurogenetic conditions – e.g. Hereditary ataxias, hereditary spastic paraplegia, genetic Parkinson’s disease
Hereditary muscle diseases – e.g. Muscular dystrophies, metabolic myopathies, channelopathies (periodic paralysis, myotonias), congenital myopathies, congenital myasthenic syndromes
Mitochondrial diseases – e.g. MELAS, MIDD, POLG-related conditions, MERRF
Acquired muscle diseases – e.g. Inclusion body myositis, autoimmune myositis, myasthenia gravis
Hereditary neuropathies, motor neuronopathies – e.g. Charcot Marie Tooth disease, Hereditary motor and sensory neuropathies, Spinal muscular atrophy

Caring for Adults with Neuromuscular and Neurogenetic Conditions

Integrated Neurology specialists care for adults (≥ 16 years) and endeavour to facilitate comprehensive investigations and patient-centred management, including genetic testing as appropriate, with ongoing monitoring, in conjunction with the referring clinician.

Dr Gu, Dr Lubomski, Dr Palavra and Dr Dinh have undergone training at the Royal North Shore Hospital neuromuscular and neurogenetics clinics, which are lead by Dr Liang. These doctors provide specialty care for these conditions at Integrated Neurology.