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Autosomal dominant childhood-onset proximal spinal muscular atrophy (SMA) without contractures is a rare, inherited nerve-and-muscle disorder. “Autosomal dominant” means one changed copy of the gene is...
Lower Extremity-Predominant Autosomal Dominant Proximal Spinal Muscular Atrophy with Contractures is a rare, inherited nerve-and-muscle disorder. It mainly weakens the muscles of the legs—especially the large...
BICD2-Related Lower-Extremity-Predominant Autosomal Dominant Proximal Spinal Muscular Atrophy with Contractures is a very rare, inherited nerve-and-muscle condition. It mainly weakens the muscles of the thighs and...
BICD2-related autosomal dominant childhood-onset proximal spinal muscular atrophy (SMALED2) is a rare inherited nerve-and-muscle disorder. It mainly weakens the large “proximal” muscles of the hips and...
Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures is a rare, inherited nerve-and-muscle condition. Children develop weakness and shrinking of muscles, mainly in the upper...
Charcot-Marie-Tooth disease, axonal, autosomal dominant type 2M (CMT2M) is a rare, inherited nerve disease. It mainly damages the long “wires” of the peripheral nerves called axons....
Charcot-Marie-Tooth disease, axonal, autosomal dominant type 2M (CMT2M) is a rare, inherited nerve disease. It mainly damages the long “wires” of the peripheral nerves called axons....
Autosomal dominant cerebellar ataxia–hearing loss–narcolepsy syndrome is a very rare, inherited brain and nerve disorder in which three main problems appear over time: (1) cerebellar ataxia—worsening...
Autosomal dominant cerebellar ataxia, deafness and narcolepsy is a very rare, inherited brain and nerve disease. “Autosomal dominant” means a single changed gene from one parent...
Autosomal dominant spinocerebellar ataxias are a family of inherited brain disorders that mainly affect the cerebellum—the balance and coordination center. “Autosomal dominant” means a child has...
Autosomal dominant hereditary ataxia is a group of inherited brain disorders where the main problem is loss of balance and coordination because parts of the brain...
Autosomal dominant cerebellar ataxia (ADCA) is a family of inherited brain conditions where the cerebellum—the part that coordinates balance, speech, and precise movement—slowly degenerates over time....
