What CMTNSv2 score indicates moderate disease severity?

CMTNSv2 range 0-36; mild 0-10, moderate 11-20, severe 21-36. Scores >10 are associated with functional limitations and often require ankle-foot orthoses or walking aids.

How do CMT type 1 and type 2 differ on NCS?

CMT1 (demyelinating): ulnar MNCV <38 m/s, median MNCV <38 m/s; CMT2 (axonal): normal to mildly slowed conduction velocities with reduced amplitudes; intermediate CMT: 25-45 m/s.

What genetics testing strategy is recommended for CMT?

PMP22 duplication (CMT1A) accounts for 70% of CMT1; test PMP22 first; if negative, MFN2 (CMT2A), MPZ, LITAF, EGR2, NEFL for CMT1/2; gene panels or WES for complex cases.

What physical therapy interventions help in CMT?

Stretching to maintain ankle dorsiflexion range, AFOs for foot drop, strengthening of unaffected muscles, swimming and low-impact aerobics; high-impact repetitive activities worsen neuropathy.

Are any drugs contraindicated in CMT?

Neurotoxic drugs (vincristine, cisplatin, taxanes, amiodarone, nitrofurantoin, high-dose pyridoxine) can precipitate severe exacerbation in CMT; patients should carry a neurotoxic drug alert list.

Charcot-Marie-Tooth Disease Severity Scale (CMTNSv2)

Calculates the Charcot-Marie-Tooth Neuropathy Score Version 2 (CMTNSv2) to track CMT disease progression, nerve conduction velocity classification, and ankle-foot orthosis prescription criteria.

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Charcot-Marie-Tooth Disease Severity Scale (CMTNSv2)

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Frequently Asked Questions

What CMTNSv2 score indicates moderate disease severity?

How do CMT type 1 and type 2 differ on NCS?

What genetics testing strategy is recommended for CMT?

What physical therapy interventions help in CMT?

Are any drugs contraindicated in CMT?