TRPV4 related scapuloperoneal spinal muscular atrophy: Report of an Italian family and review of the literature

F. Biasini, Simona Portaro, A. Mazzeo, G. Vita, G. M. Fabrizi, F. Taioli, A. Toscano, C. Rodolico

Research output: Contribution to journalArticlepeer-review

Abstract

Scapuloperoneal spinal muscular atrophy (SPSMA) is a rare autosomal dominant disorder caused by heterozygous mutations in the transient receptor potential cation channel (TRPV4) gene, characterized by progressive scapuloperoneal atrophy and weakness. Additional features, such as vocal cord paralysis, scoliosis and/or arthrogryposis, are likely to occur. We report the first Italian family with SPSMA, harboring the c.806G>A mutation in TRPV4 gene (p. R269H). The pattern of expression was variable: the father showed a mild muscular involvement, while the son presented at birth skeletal dysplasia and a progressive course. We reinforce the concept that the disease can be more severe in the following generations. The disorder should be considered in scapuloperoneal syndromes with autosomal dominant inheritance and a neurogenic pattern. The presence of skeletal deformities strongly supports this suspicion. An early diagnosis of SPSMA may be crucial in order to prevent the more severe congenital form.

Original languageEnglish
JournalNeuromuscular Disorders
DOIs
Publication statusPublished - Apr 2016

Keywords

  • Member 4 (TRPV4)
  • Scapuloperoneal spinal muscular atrophy (SPSMA)
  • Subfamily V
  • Transient receptor potential cation channel

ASJC Scopus subject areas

  • Clinical Neurology
  • Pediatrics, Perinatology, and Child Health
  • Genetics(clinical)
  • Neurology

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