Glossary

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Becker Muscular Dystrophy(also: BMD)

A genetic neuromuscular disorder caused by mutations in the dystrophin gene on the X chromosome, resulting in progressive muscle weakness and wasting. Becker Muscular Dystrophy is similar to Duchenne Muscular Dystrophy but generally has a later onset (typically in the teens or…

Duchenne Muscular Dystrophy(also: DMD, Duchenne MD)

Duchenne Muscular Dystrophy (DMD) is a severe genetic disorder characterized by progressive muscle degeneration and weakness, caused by mutations in the dystrophin gene on the X chromosome. It primarily affects boys, with symptoms typically appearing between ages 2-5 and…

Friedreich's Ataxia(also: FA, FRDA)

A progressive neuromuscular disease causing increasing ataxia (loss of voluntary coordination of muscle movements), dysarthria (slurred speech), muscle weakness, and in many cases pathological nystagmus (involuntary eye movements). Friedreich's Ataxia typically presents in…

Functional Electrical Stimulation(also: FES)

A rehabilitation technique that uses low-level electrical currents to activate paralyzed or weakened muscles in people with neurological conditions such as spinal cord injury, stroke, or multiple sclerosis. Electrodes placed on the skin or implanted near motor nerves deliver…

Muscular Dystrophy(also: MD)

A group of inherited genetic conditions that cause progressive weakness and loss of muscle mass, affecting mobility, upper limb function, and in some forms, respiratory and cardiac function. People with muscular dystrophy often rely on electric wheelchairs for mobility and may…

Muscular Dystrophy(also: MD)

A group of inherited genetic conditions that cause progressive weakness and degeneration of skeletal muscles, the muscles that control movement. There are many types of muscular dystrophy varying in severity, age of onset, and which muscles are affected. Because muscular…

Myopathy(also: Muscle Disease)

A group of disorders affecting skeletal muscle function, characterized by muscle weakness, cramping, stiffness, or wasting. Myopathies can be inherited (muscular dystrophies) or acquired (inflammatory myopathies, metabolic myopathies). For digital accessibility, people with…

Spinal Muscular Atrophy(also: SMA)

Spinal Muscular Atrophy (SMA) is an autosomal recessive neurodegenerative disease characterized by degeneration of spinal cord motor neurons, atrophy of skeletal muscles, and generalized weakness. Affecting approximately 1 in 6,000-10,000 live births, SMA is the leading genetic…

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