Severe early-onset axonal neuropathy due to MFN2 deficiency

MONDO:0019549

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.

Also known as: AR-CMT2, Ouvrier type, SEOAN due to MFN2 deficiency, autosomal recessive Charcot-Marie-Tooth disease, Ouvrier type

6 clinical trials for this condition and its sub-types, 0 tagged with Severe early-onset axonal neuropathy due to MFN2 deficiency itself.

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↑ Hereditary motor and sensory neuropathy (3)

Including sub-types (6) Tagged with Severe early-onset axonal neuropathy due to MFN2 deficiency (0)

Trials to join now! 4 Completed 1 Terminated 1

Severe early-onset axonal neuropathy due to MFN2 deficiency

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