Conditions / Musculoskeletal
Charcot-Marie-Tooth disease type 2DD
info · Musculoskeletal
A Charcot-Marie-Tooth disease type 2 characterized by neuropathy mainly affecting the lower limbs that has_material_basis_in heterozygous mutation in the ATP1A1 gene on chromosome 1p13.1.
Signs and symptoms
- Hyporeflexia
- Steppage gait
- Pes cavus
- Distal amyotrophy
- Muscle spasm
- Areflexia
- Distal muscle weakness
- Sensorimotor neuropathy
- Foot dorsiflexor weakness
- Impaired distal vibration sensation
Also known as: ATP1A1-related CMT2; ATP1A1-related autosomal dominant Charcot-Marie-Tooth disease type 2; CMT2DD; Charcot-Marie-Tooth disease, axonal, type 2DD; Charcot-Marie-Tooth neuropathy, type 2DD