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

Highlights • We present a case of congenital spinal muscular atrophy with pain. • A TRPV4 gene mutation leading to an Arg269His substitution caused her disease. • TRPV4 mutations cause highly varied neuromuscular and non-neuromuscular phenotypes. • Sensory-motor neuropathy and pure motor neuropathy...

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Veröffentlicht in:	Neuromuscular disorders : NMD 2016-12, Vol.26 (12), p.841-843
Hauptverfasser:	Fleming, Jason, MD, Quan, Dianna, MD
Format:	Artikel
Sprache:	eng
Schlagworte:	Adult Anterior nerve cell disease Diagnosis, Differential Electromyography Female Genetics Humans Muscular Atrophy, Spinal - complications Muscular Atrophy, Spinal - diagnosis Muscular Atrophy, Spinal - genetics Muscular Atrophy, Spinal - physiopathology Neural Conduction Neurology Pain Pain - complications Pain - diagnosis Pain - genetics Pain - physiopathology Peripheral neuropathy Phenotype Point Mutation TRPV Cation Channels - genetics TRPV4
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Beschreibung
Zusammenfassung:	Highlights • We present a case of congenital spinal muscular atrophy with pain. • A TRPV4 gene mutation leading to an Arg269His substitution caused her disease. • TRPV4 mutations cause highly varied neuromuscular and non-neuromuscular phenotypes. • Sensory-motor neuropathy and pure motor neuropathy or neuronopathy can occur. • Arg269His substitutions may cause pathology via increased calcium channel activity.
ISSN:	0960-8966 1873-2364
DOI:	10.1016/j.nmd.2016.09.013