Hereditary Motor/Sensory Neuropathy Classification

Hereditary Motor and Sensory Neuropathy Classification
Based on clinical, electrophysiologic, and morphologic criteria·       HMSN I/CMT 1  “hypertrophic form”       demyelinating CMT;·       Usually autosomal dominant; recessive form more severe·       Pathology-nerve biopsy: segmental demyelination, onion-bulb formation, increase endoneural space, extensive loss of myelinated fibers.·       Slowly progressive distal weakness and wasting more prominent than sensory loss; areflexia distal or more generalized·       Foot deformity (pes cavus), gait disturbance, late childhood/early adulthood.  Scoliosis in more severe cases.·       Marked NCV reduction.

·       EMG:  positive sharp wave, fibrillation activity frequently; loss of motor unit recruitment pattern with sign of increased amplitude/duration MUPs with re-innervation.

·       HMSNII/CMT 2 “neuronal form”    neuroaxonal CMT;

·       Usually autosomal dominant, less severe than CMT1.

·       Pathology- biopsy: loss of larger axons, onion bulb formation absent. Demyelination rare, little loss of endoneural space.

·       NCV slowing not as marked.  May be in normal range.

·       EMG fasciculation, complex repetitive discharge activity more frequent.

·       EMG partial denervation

·       HMSN III          Dejerine-Sottas disease-early onset demyelinating;

·       Autosomal recessive

·       Motor/sensory peripheral neuropathy

·       Weakness, gait disturbance, sensory loss, decreased/absent DTR.

·       May be sensory ataxia.

·       NCV-marked slowing; sensory responses may be absent.

·       HMSN IV          Refsum Disease

·       HMSN V familial spastic paraplegia

·       HMSN VI          optic atrophy

·       HMSN VII        retinitus pigmentosa

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