Conditions / Musculoskeletal
Charcot-Marie-Tooth disease axonal type 2T
info · Musculoskeletal · ICD-10: G60.0
A Charcot-Marie-Tooth disease type 2 that has_material_basis_in homozygous or compound heterozygous mutation in the MME gene on chromosome 3q25.
Signs and symptoms
- Hyporeflexia
- Distal lower limb muscle weakness
- Distal sensory impairment
- Unsteady gait
- Distal lower limb amyotrophy
- Areflexia
- Sensorimotor neuropathy
- Foot dorsiflexor weakness
- Dementia
Also known as: AR-CMT2T; CMT2T; Charcot-Marie-Tooth neuropathy type 2T; autosomal recessive axonal Charcot-Marie-Tooth disease type 2T