On donne le nom de maladies neuromusculaires à un grand nombre de troubles médicaux différents qui affectent la fonction musculaire. Pour en savoir plus sur les causes, les symptômes, l’évolution et la prise en charge d’une maladie neuromusculaire précise, sélectionnez son nom dans la liste ci-dessous.

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

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: adenylate deaminase deficiency

Includes: amyloid neuropathy, familial / inherited

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

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

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

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: 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: Isaac syndrome

Includes: Kennedy disease

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