A case of congenital spinal muscular atrophy with pain due to a mutation in TRPV4.

  title={A case of congenital spinal muscular atrophy with pain due to a mutation in TRPV4.},
  author={Jason Fleming and Dianna Quan},
  journal={Neuromuscular disorders : NMD},
  volume={26 12},
We present a patient with congenital spinal muscular atrophy associated with pain, subjective sensory loss, right talipes equinovarus, delayed walking, and progressive gait impairment. A sister and niece reportedly had Charcot-Marie-Tooth 1A, but the patient's electromyogram showed an axonal motor neuropathy or neuronopathy. We identified a c.806G>A TRPV4 gene mutation causing an Arg269His amino acid substitution. TRPV4 mutations cause variable phenotypes including axonal sensorimotor… CONTINUE READING


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