The Inherited Neuropathies Consortium reports the clinical data of 68 patients with TRPV4-related neuromuscular disease (Charcot-Marie-Tooth 2C disease, scapuloperoneal spinal muscular atrophy and congenital distal spinal muscular atrophy) collected as part of a natural history study (NCT01193075) conducted in the United States, Italy and the United Kingdom.
- The age of onset of TRPV4-related hereditary neuropathies is bimodally distributed, with a larger peak in the first two years of life (54%) and a much smaller second peak between the ages of 34 and 48.
- The manifestations are essentially motor, although a sensory impairment is often found clinically.
- Compared with CMT1A, walking difficulties are more marked and proximal involvement of the arms and legs is more frequent.
- Fifty-five per cent of TRPV4 patients had vocal cord involvement, 55% had shortness of breath and 11% required ventilatory support.
- Skeletal abnormalities were common: 64% had scoliosis, 45% had clubfoot, 33% had arthrogryposis and 7.5% had tethered spinal cord syndrome, an abnormality recently described in this condition.
