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Autosomal dominant slowed nerve conduction velocity means a person inherits (from one parent) a gene change that damages the myelin covering of peripheral nerves. Because myelin...
Autosomal recessive cerebellar ataxia due to GBA2 deficiency is a rare, inherited brain disorder. It mainly affects the cerebellum, the part of the brain that controls...
Autosomal recessive complex spastic paraplegia caused by mutations in CAPN1 is a rare inherited nerve disorder. It mainly makes the legs stiff and tight (spastic), so...
Autosomal recessive neuromyotonia and axonal neuropathy is a rare, inherited nerve disease. It starts in childhood or the teen years. It damages the axons (the long...
Autosomal recessive polycystic kidney disease (ARPKD) is a rare genetic disorder characterized by the formation of fluid-filled sacs (cysts) in the kidneys. Most affected infants have...
Autosomal recessive spinocerebellar ataxia 10 (SCAR10) is a rare, inherited brain disorder that mainly affects the cerebellum—the part that coordinates balance, speech, and eye movements. It...
Autosomal Recessive Spinocerebellar Ataxia 11 (SCAR11) is a very rare genetic brain disorder that mainly damages the cerebellum, the part of the brain that controls balance,...
Autosomal recessive syndromic cerebellar ataxia caused by mutation in SYT14 (SCAR11) is a rare, inherited brain disorder that mainly affects the cerebellum, the part of the...
Avellis Syndrome is a complex medical condition that affects individuals in various ways. In this comprehensive guide, we’ll delve into its definition, types, causes, symptoms, diagnostic...
Axonal Sensory Ataxic Neuropathy (ASAN) is a form of sensory neuronopathy characterized by primary axonal degeneration of peripheral sensory fibers, often due to damage of dorsal...
Azorean disease (Machado-Joseph disease/SCA3) is a rare, inherited brain disorder that slowly affects balance, walking, speech, eye movements, and fine hand control. It runs in families...
Azorean Disease of the Nervous System is an inherited brain and nerve disorder that gradually affects balance, walking, speech, and eye movements. The main problem is...
