Intended for healthcare professionals

Endgames Case Report

Chronic and slowly progressive weakness of the legs and hands

BMJ 2014; 348 doi: (Published 28 January 2014) Cite this as: BMJ 2014;348:g459
  1. Helen Nightingale, academic foundation doctor,
  2. Gerald Pfeffer, consultant neurologist,
  3. Rita Horvath, professor of neurogenetics
  1. 1Institute of Genetic Medicine, Newcastle University, Newcastle NE1 3BZ, UK
  1. Correspondence to: R Horvath rita.horvath{at}

A 59 year old man was referred for a definitive diagnosis of chronic and progressive bilateral weakness of his feet and legs, which began aged 11 years. This was associated with gradual clawing of his feet, bilateral hand weakness, bilateral mild numbness of his hands and feet, and foot pain. No bladder or bowel disturbance was reported.

His sister, father, and paternal grandmother also had onset of similar symptoms in childhood.

On examination we found no cranial nerve abnormality. Tone was normal throughout. He had a postural upper limb tremor and Medical Research Council (MRC) grade 4/5 weakness and wasting of the intrinsic muscles of the hand. He also had bilateral pes cavus, wasting of the calf muscles (figure), and MRC grade 4/5 weakness of hip and knee flexion and extension and 3/5 weakness in the feet. Achilles tendon reflexes were absent but remaining deep tendon reflexes were normal with downgoing plantar responses. Mild sensory loss to pinprick was present below the elbows and knees. Vibration sensation was reduced below the ankles, proprioception was normal throughout, and the Romberg test was negative. No cerebellar dysfunction was detected. He had a high stepping gait.

Pes cavus and wasting of the calf muscles in this patient

Nerve conduction studies showed reduced compound muscle and sensory nerve action potential amplitudes with well preserved velocities.


  • 1 What do the clinical examination and nerve conduction studies indicate?

  • 2 What is the differential diagnosis?

  • 3 What are the most common inheritance patterns of this condition?

  • 4 What initial genetic tests should be considered?

  • 5 How should this patient be managed?


1 What do the clinical examination and nerve conduction studies indicate?

Short answer

An axonal sensorimotor neuropathy.

Long answer

Axonal damage results in reduced amplitude of the compound muscle and sensory nerve action potentials, which are generated by muscle fibre activation from the stimulated nerve.1 By contrast, demyelination slows …

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