Respiratory Failure in Infants Due to Spinal Muscular Atrophy with Respiratory Distress Type 1

Overview

Journal Intensive Care Med

Specialty Critical Care

Date 2006 Sep 12

PMID 16964485

Citations 13

Authors

Alberto Giannini

Anna Maria Pinto

Giordano Rossetti

Edi Prandi

Danilo Tiziano

Christina Brahe

Nardo Nardocci

Affiliations

Soon will be listed here.

Abstract

Background: Spinal muscular atrophy with respiratory distress type 1 (SMARD1) is a rare autosomal recessive neuromuscular disease of unknown prevalence characterized by degeneration of anterior horn alpha-motoneurons and manifesting in the first 6months of life as life-threatening irreversible diaphragmatic paralysis associated with progressive symmetrical muscular weakness (distal lower limbs mainly involved), muscle atrophy, and peripheral sensory neuropathy.

Setting: Pediatric intensive care unit of tertiary care hospital.

Patients: We present two new cases of SMARD1 and report two new mutations in the gene IGHMBP2 which encodes immunoglobulin mu-binding protein 2 on chromosome 11q13.

Conclusions: SMARD1 is a poor-prognosis disease that should be considered when acute respiratory insufficiency, of suspected neuromuscular or unclear cause, develops during the first 6months of life. Diaphragmatic paralysis, manifesting as dyspnea and paradoxical respiration, is the most prominent presenting sign and diaphragmatic motility should be investigated early by fluoroscopy or ultrasound. Electromyography and nerve conduction studies revealing peripheral motor and sensory neuropathy then suggest the diagnosis which should be confirmed by genetic analysis.

Citing Articles

Exploring the relationship between gene mutations and spinal muscular atrophy with respiratory distress type 1 and Charcot-Marie-Tooth disease type 2S: a systematic review.

Tian Y, Xing J, Shi Y, Yuan E Front Neurosci. 2023; 17:1252075.

PMID: 38046662 PMC: 10690808. DOI: 10.3389/fnins.2023.1252075.

Severe Infantile Axonal Neuropathy with Respiratory Failure Caused by Novel Mutation in X-Linked Gene.

Stembalska A, Rydzanicz M, Walas W, Gasperowicz P, Pollak A, Pienkowski V Genes (Basel). 2022; 13(5).

PMID: 35627110 PMC: 9142081. DOI: 10.3390/genes13050725.

Diagnostic value of whole-exome sequencing in Chinese pediatric-onset neuromuscular patients.

Tsang M, Chiu A, Kwong B, Liang R, Yu M, Yeung K Mol Genet Genomic Med. 2020; 8(5):e1205.

PMID: 32154989 PMC: 7216811. DOI: 10.1002/mgg3.1205.

Current understanding of and emerging treatment options for spinal muscular atrophy with respiratory distress type 1 (SMARD1).

Perego M, Galli N, Nizzardo M, Govoni A, Taiana M, Bresolin N Cell Mol Life Sci. 2020; 77(17):3351-3367.

PMID: 32123965 PMC: 11104977. DOI: 10.1007/s00018-020-03492-0.

Spinal muscular atrophy with respiratory distress type 1: Clinical phenotypes, molecular pathogenesis and therapeutic insights.

Saladini M, Nizzardo M, Govoni A, Taiana M, Bresolin N, Comi G J Cell Mol Med. 2019; 24(2):1169-1178.

PMID: 31802621 PMC: 6991628. DOI: 10.1111/jcmm.14874.

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