For in-depth information on a range of neuromuscular disorders, please download one of the “fact sheets” listed below.
The fact sheets have been adapted from material originally prepared by MDA USA with their kind permission. We are grateful to them for providing this valuable and informative material.
The fact sheets can be read using Adobe Reader, available at www.adobe.com.
also known as Hereditary & Motor Sensory Neuropathy (HMSN)
and also as Peroneal Muscular Atrophy
What is a genetic disorder?
How can genetic testing and counselling help?
How are genetic disorders inherited?
What are the patterns of inheritance for neuromuscular diseases?
What is ‘mitochondrial inheritance’?
Inclusion-Body Myositis (IBM)
Limb-Girdle Muscular Dystrophy
Facioscapulohumeral Muscular Dystrophy
Myotonic Muscular Dystrophy
Ophthalmoplegic Muscular Dystrophy
Distal Muscular Dystrophy
Amyotrophic Lateral Sclerosis (ALS)
Progressive Muscular Atrophy
Progressive Bulbar Palsy
Myasthenia Gravis (MG)
Lambert-Eaton Myasthenic Syndrome (LES)
Congenital Myasthenic Syndrome (CMS)
Myotonia Congenita (Thomsen’s disease and Becker type)
Paramyotonia Congenita (Eulenberg’s disease)
Periodic Paralysis (hyperkalaemic, hypokalaemic, normokalemic)
Central Core Disease
Nemaline Myopathy (Rod Body Disease)
Myotubular Myopathy (Centronuclear Myopathy)
Type 1 MMD (MMD1)
Type 2 MMD (MMD2)
Congenital Muscular Dystrophy (CMD)
Emery-Dreifuss Muscular Dystrophy (EDMD)
Oculopharyngeal Muscular Dystrophies (OPMD)
Spinal-Bulbar Muscular Atrophy