Table 3.

Recommended Evaluations Following Initial Diagnosis in Individuals with MFN2 Hereditary Motor and Sensory Neuropathy

System/ConcernEvaluationComment
Peripheral
neuropathy 		Neurologic examTo determine extent of weakness & atrophy, pes cavus, gait stability, & sensory loss
EMG w/NCVTo determine axonal form of neuropathy, severity, & involvement of sensory system
Musculoskeletal Orthopedics / physical medicine & rehab / PT & OT evalTo incl assessment of:
  • Gross motor & fine motor skills & need for PT (to improve gross motor skills) &/or OT (to improve fine motor skills)
  • Feet for evidence of pes cavus, need for AFOs, specialized shoes
  • Mobility, ADL, & need for adaptive devices
  • Need for handicapped parking
Optic atrophy Ophthalmologic exam incl VEPTo incl visual acuity, color vision testing, visual field testing for evidence of central scotomas
Genetic
counseling 		By genetics professionals 1To inform affected persons & their families re nature, MOI, & implications of MFN2-HMSN to facilitate medical & personal decision making
Family support
& resources 		Assess need for:

ADL = activities of daily living; AFOs = ankle/foot orthoses; EMG = electromyogram; MOI = mode of inheritance; NCV = nerve conduction velocity; OT = occupational therapy; PT = physical therapy; VEP = visual evoked potentials

1.

Medical geneticist, certified genetic counselor, certified advanced genetic nurse

From: MFN2 Hereditary Motor and Sensory Neuropathy

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