Learn About Neuromuscular Disease
Find a Neuromuscular Disease
Kids and adults in hometowns across America are living with diseases that weaken muscles and take away everyday abilities such as walking, running, hugging, getting dressed independently and even talking and breathing. MDA provides research, care and support for a broad range of these life-threatening neuromuscular diseases. By harnessing the power of a multiple-disease approach, MDA leverages learnings from one disease to accelerate progress in others for individuals and families.
Diseases are in alphabetical order within each category:
The muscular dystrophies are a group of diseases that cause weakness and degeneration of the skeletal muscles.
- Bethlem CMD
- Fukuyama CMD
- Muscle-eye-brain diseases (MEBs)
- Rigid spine syndromes
- Ullrich CMD
- Walker-Warburg syndromes (WWS)
Motor neuron diseases
In motor neuron diseases, nerve cells called motor neurons progressively lose function, causing the muscles they control to become weak and then nonfunctional.
Ion channel diseases
Ion channel diseases are associated with defects in proteins called ion channels, and typically are marked by muscular weakness, absent muscle tone, or episodic muscle paralysis.
Mitochondrial diseases occur when structures that produce energy for a cell malfunction.
MDA covers all mitochondrial myopathies, including the following:
- 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)
A myopathy is a disease of muscle in which the muscle fibers do not function properly, resulting in muscular weakness.
- Cap myopathies
- Centronuclear myopathies
- Congenital myopathies with fiber type disproportion
- Core myopathies
- Myosin storage myopathies
- Myotubular myopathies
- Nemaline myopathies
- GNE myopathy/Nonaka myopathy/hereditary inclusion-body myopathy (HIBM)
- Laing distal myopathy
- Markesberg-Griggs late-onset distal myopathy
- Miyoshi myopathy
- Udd myopathy/tibial muscular dystrophy
- Vocal cord and pharyngeal distal myopathy
- Welander distal myopathy
- Acid maltase deficiency (AMD, Pompe disease)
- Carnitine deficiency
- Carnitine palmityl transferase deficiency
- 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)
Myofibrillar myopathies (MFM)
Neuromuscular Junction Diseases
Neuromuscular junction diseases result from the desctruction, 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 sensation, movement or other functions.
Giant axonal neuropathy (GAN)
Because of continuing advances in research and medicine, this list is meant to serve as a guide.