severe early-onset axonal neuropathy due to MFN2 deficiency
A rare axonal hereditary motor and sensory neuropathy characterized by early onset (<10 years) progressive distal muscle weakness and wasting of the lower limbs and later, to a lesser extent the upper limbs resulting in foot and wrist drop, areflexia, skeletal deformities (kyphoscoliosis, pes cavus with flattening, joint contractures), mild sensory impairment with vibration sense reduced to a greater extent than pain, optic atrophy and hearing loss. Wheelchair dependence by adolescence is usual and respiratory impairment with diaphragmatic paralysis may develop.
MONDO:0015358
hereditary motor and sensory neuropathy
is_a
AR-CMT2, Ouvrier type
exact
SEOAN due to MFN2 deficiency
exact
autosomal recessive Charcot-Marie-Tooth disease, Ouvrier type
exact