Table 2.

Clinical Designations Used to Refer to MFN2 Hereditary Motor and Sensory Neuropathy

DesignationMOIClinical Findings
Axonal peripheral sensorimotor neuropathy
HMSN VADAxonal peripheral sensorimotor neuropathy w/brisk reflexes
ADOptic atrophy assoc w/MFN2-HMSN phenotype
HMSN VIIADAxonal CMT phenotype w/mild pyramidal signs incl extensor plantar responses, mild ↑ in tone, & preserved or ↑ reflexes, but no spastic gait 2

AD = autosomal dominant; AR = autosomal recessive; HMSN = hereditary motor and sensory neuropathy; MOI = mode of inheritance


Older classification systems may further divide this designation into CMT2A2A (to refer to AD inheritance) and CMT2A2B (to refer to AR inheritance).


From: MFN2 Hereditary Motor and Sensory Neuropathy

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