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Article

Infantile spinal muscular atrophy with respiratory distress type I (SMARD 1): an atypical phenotype and review of the literature.

European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society - 1 Jan 2012

Messina Maria F, Messina Sonia, Gaeta Michele, Rodolico Carmelo, Salpietro Damiano Anna M, Lombardo Fortunato, Crisafulli Giuseppe, De Luca Filippo

Abstract excerpt

Spinal muscular atrophy with respiratory distress (SMARD 1) is a very rare autosomal recessive motor neuron disorder that affects infants and is characterized by diaphragmatic palsy, symmetrical distal muscular weakness, muscle atrophy, peripheral sensory neuropathy and autonomic nerve dysfunction. SMARD 1 is inherited as an autosomal recessive trait and the mutations have been identified in the gene encoding...

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Source

Identifiers

PMID: 22099258
DOI: 10.1016/j.ejpn.2011.10.005

Genes

IGHMBP2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026.

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