Find a Neuromuscular Disease
To learn more about one of these neuromuscular diseases, along with the research, care and support we provide, use the search bar or find the disease in the list below.
Muscular Dystrophies
The muscular dystrophies are a group of diseases that cause weakness and degeneration of the skeletal muscles.
Motor neuron diseases
In motor neuron disease, nerve cells called motor neurons progressively lose function, causing the muscles they control to become weak and then nonfunctional.
Ion channel diseases
Diseases associated with defects in proteins called ion channels typically are marked by muscular weakness, absent muscle tone, or episodic muscle paralysis.
Mitochondrial diseases
Mitochondrial diseases occur when structures that produce energy for a cell malfunction.
- Friedreich’s ataxia (FA or FRDA)
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Mitochondrial myopathies
- Kearns-Sayre syndrome (KSS)
- Leigh syndrome (subacute necrotizing encephalomyopathy)
- Mitochondrial DNA depletion syndromes
- Mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (MELAS)
- Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE)
- Myoclonus epilepsy with ragged red fibers (MERRF)
- Neuropathy, ataxia and retinitis pigmentosa (NARP)
- Pearson syndrome
- Progressive external opthalmoplegia (PEO)
Myopathies
A myopathy is a disease of muscle in which the muscle fibers do not function properly, resulting in muscular weakness.
- Congenital myopathies
- Distal myopathies
- Endocrine myopathies
- Inflammatory myopathies
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Metabolic myopathies
- Acid maltase deficiency (AMD, Pompe disease)
- Carnitine deficiency
- Carnitine palmitoyltransferase dificiency
- Debrancher enzyme deficiency (Cori disease, Forbes disease)
- Lactate dehydrogenase deficiency
- Myoadenylate deaminase deficiency
- Phosphofructokinase deficiency (Tarui disease)
- Phosphoglycerate kinase deficiency
- Phosphoglycerate mutase deficiency
- Phosphorylase deficiency (McArdle disease)
- Adenylosuccinate Synthetase 1 (ADSS1) Myopathy
- Myofibrillar myopathies (MFM)
- Scapuloperoneal myopathy
Neuromuscular junction diseases
Neuromuscular junction disorders result from the destruction, malfunction or absence of one or more key proteins involved in the transmission of signals between muscles and nerves.
Peripheral nerve diseases
In peripheral nerve diseases, the motor and sensory nerves that connect the brain and spinal cord to the rest of the body are affected, causing impaired sensations, movement or other functions.
- Charcot-Marie-Tooth disease (CMT)
- Giant axonal neuropathy (GAN)
Because of continuing advances in research and medicine, this list is meant to serve as a guide. To find out if MDA covers a disease that is not listed here, contact the MDA Resource Center by email at ResourceCenter@mdausa.org or by phone at 1-833-ASK-MDA1 (1-833-275-6321).
