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Autosomal recessive distal spinal muscular atrophy 2
- ... muscular atrophy with respiratory distress Genetic Testing Registry: Autosomal recessive distal spinal muscular atrophy 1 Spinal muscular atrophy with respiratory distress type ...
- ... variants. The parents of an individual with an autosomal recessive condition each carry one copy of the altered gene, but they typically ... myoclonic epilepsy syndrome Spinal muscular ...
- ... those with type I generally have one or two copies, those with type II usually have three copies, those with type III ... Spinal muscular atrophy is inherited in an autosomal recessive pattern, which means both copies of the SMN1 ...
- ... neurons) that transmit nerve impulses. In people with autosomal recessive axonal neuropathy with neuromyotonia, the damage primarily causes progressive weakness and wasting (atrophy) of muscles in the feet, legs, and hands. Muscle weakness ...
