Clinical Guidance

MFN2 hereditary motor and sensory neuropathy (MFN2-HMSN) is a classic axonal peripheral sensorimotor neuropathy characterized by earlier and more severe involvement of the lower extremities than the upper extremities, distal upper-extremity involvement as the neuropathy progresses, and more prominent motor deficits than sensory deficits. MFN2-HMSN can be caused by a heterozygous pathogenic variant (autosomal dominant inheritance) or biallelic pathogenic variants (semi-dominant inheritance or autosomal recessive inheritance). The phenotypes associated with the different modes of inheritance do not differ significantly .

Diagnostic Criteria

Formal diagnostic criteria for MFN2 hereditary motor and sensory neuropathy have not been established.

Suggestive Findings

MFN2 hereditary motor and sensory neuropathy (MFN2-HMSN) should be considered in individuals with the following clinical and neurophysiologic findings. Note: No specific findings distinguish MFN2-HMSN from other inherited hereditary motor and sensory neuropathies.

Clinical findings

Management Guidelines

Evaluations Following Initial Diagnosis To establish the extent of disease and needs in an individual diagnosed with MFN2 hereditary motor and sensory neuropathy (MFN2-HMSN), the evaluations summarized (if not performed as part of the evaluation that led to the diagnosis) are recommended. Table 3. Recommended Evaluations Following Initial Diagnosis in Individuals with MFN2 Hereditary Motor and Sensory Neuropathy

Surveillance Guidelines

Table 4. Recommended Surveillance for Individuals with MFN2 Hereditary Motor and Sensory Neuropathy