Neuromuscular disorders is a term that encompasses many different medical conditions that impair the functioning of the muscles. To learn more about some of the causes, symptoms, progression and management of a specific neuromuscular disorder, select the name of the condition form the list below.

Includes: amyloid neuropathy, familial / inherited

Includes: Parsonage-Turner syndrome, hereditary neuralgic amyotrophy (SEPT9 related disease)

Includes: CMT type 1, type 2, type 4, type X, hereditary neuropathy with liability to pressure palsies (HNPP), hereditary motor neuropathies (HMN) [must be diagnosed by electrodiagnostic testing (NCS/EMG) or genetic testing). Note CMT is synonymous with Hereditary Motor Sensory Neuropathies (HMSN).

Includes: Bethlem myopathy, Ulrich myopathy, COL6A related myopathies

Includes: Fukayama muscular dystrophy, muscle-eye-brain disease, Walker-Warburg syndrome

Includes: merosin negative congenital muscular dystrophy, laminopathies, LAMA2 related myopathies

Includes: Acetylcholine receptor (AChR) mutations / deficiency (incl. slow & fast channel syndromes), Rapsyn, MuSK, CHAT, Agrin, ColQ, DOK7 mutations.

Includes: nemaline rod myopathy, central core disease, multi-minicore disease, congenital fiber type disproportion, centronuclear myopathy, tubular aggregate myopathy, myofibrillar (desmin) myopathies

Includes: Laing myopathy, Inclusion body myopathy (inherited), Miyoshi myopathy, Nonaka myopathy, Udd myopathy (tibial myopathy), Welander myopathy

this is already mentioned, see above

Includes: Pompe disease or acid maltase deficiency (GSD type II), Debrancher deficiency (GSD III), Andersen disease or branching enzyme deficiency (GSD type IV), McArdle disease or phosphorylase deficiency or myophosphorylase deficiency (GSD V), Tarui’s disease or phosphofructokinase deficiency (GSD VII), Aldolase deficiency (GSD XII)

Includes: acute inflammatory demyelinating polyradiculoneuropathy (AIDP), acute motor axonal sensory neuropathy (AMSAN), acute motor axonal neuropathy (AMAN)

Includes: Steinart disease

Includes: proximal myotonic dystrophy (PPROM)

Includes: myotonia congenital (Thompson & Becker disease), acetazolide responsive myotonia, paramyotonia congenital, hyperkalemic period paralysis (Gamstorp disease) and hypokalemic periodic paralysis, Brody syndrome / myopathy, Schwartz-Jampel syndrome

Includes: adenylate deaminase deficiency

Includes: Isaac syndrome

Includes: Kennedy disease