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CTS with Underlying CMT1A — SCE Neurology MCQ

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HardPeripheral Neuropathy & NeuromuscularCTS with Underlying CMT1ASCE Neurology

A 40-year-old woman presents with bilateral carpal tunnel syndrome. Her neurologist notes bilateral pes cavus, mild distal leg weakness, and absent ankle jerks. She says her mother also has 'clawed feet'. NCS show diffuse sensorimotor demyelinating changes (uniform conduction velocity slowing to 22 m/s). What should be considered in addition to treating her CTS?

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Correct answer: D — She may have an underlying hereditary neuropathy (CMT1A) predisposing to entrapment neuropathies — genetic testing for PMP22 duplication should be offered

The best answer is “She may have an underlying hereditary neuropathy (CMT1A) predisposing to entrapment neuropathies — genetic testing for PMP22 duplication should be offered”. MS care requires phenotype confirmation, relapse assessment, symptom management and specialist disease-modifying therapy; ocrelizumab is an NHS option for eligible early inflammatory primary progressive disease. The alternatives “The CTS is an isolated problem, after excluding important mimics, after specialist assessment, when the phenotype supports it, within the relevant UK pathway”, “She has CIDP, after specialist assessment, when the phenotype supports it, within the relevant UK pathway, after excluding important mimics”, “She has diabetic neuropathy, when the phenotype supports it, within the relevant UK pathway, after excluding important mimics, after specialist assessment”, “She has vitamin B12 deficiency, within the relevant UK pathway, after excluding important mimics, after specialist assessment, when the phenotype supports it” are clinically adjacent possibilities, but they do not match the defining chronology, localisation, physiology, investigation result or UK management sequence in this stem.

Reference: NICE NG220 multiple sclerosis recommendations: https://www.nice.org.uk/guidance/ng220/chapter/Recommendations