Conditions / Musculoskeletal
Charcot-Marie-Tooth disease type 2EE
info · Musculoskeletal
A Charcot-Marie-Tooth disease type 2 characterized by slowly progressive axonal neuropathy primarily affecting the lower limbs with onset in the first or second decades of life that has_material_basis_in homozygous or compound heterozygous mutation in the MPV1
A Charcot-Marie-Tooth disease type 2 characterized by slowly progressive axonal neuropathy primarily affecting the lower limbs with onset in the first or second decades of life that has_material_basis_in homozygous or compound heterozygous mutation in the MPV17 gene on chromosome 2p23.3.
Signs and symptoms
- Peripheral axonal neuropathy
- EMG: chronic denervation signs
- Hyporeflexia
- Ulnar claw
- Gait disturbance
- Pes cavus
- Distal amyotrophy
- Impaired distal tactile sensation
- Distal muscle weakness
- Areflexia
Also known as: CMT2EE; Charcot-Marie-Tooth disease, axonal, type 2EE