Autosomal dominant Charcot-Marie-Tooths sykdom type 2DD
Engelsk navn: Autosomal dominant Charcot-Marie-Tooth disease type 2DD
Engelske synonym: ATP1A1-related CMT2,ATP1A1-related autosomal dominant Charcot-Marie-Tooth disease type 2,CMT2DD
A rare autosomal dominant hereditary axonal motor and sensory neuropathy characterized by predominantly distal weakness and muscle atrophy, decreased or absent tendon reflexes, and reduced vibratory sensation in the lower and upper extremities. Pes cavus develops in many patients. Additional symptoms like ataxia, tremor, or swallowing difficulties have been reported. Patients usually remain ambulatory even late in the disease. Age of onset ranges from childhood to adulthood, with earlier onset tending to be associated with a more severe disease phenotype.