Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

The Clinical Heterogeneity of Spinal Muscular Atrophy with Respiratory Distress Type 1 (SMARD1)-A Report of Three Cases, Including Twins.

Genes - 30 Jul 2024

Leśniak Alicja, Glińska Marta, Patalan Michał, Ostrowska Iwona, Świrska-Sobolewska Monika, Giżewska-Kacprzak Kaja, Kotkowiak Agata, Leśniak Anna, Walczak Mieczysław, Śmigiel Robert, Giżewska Maria

Abstract excerpt

Spinal muscular atrophy with respiratory distress type 1 (SMARD1; OMIM #604320, ORPHA:98920) is a rare autosomal recessive congenital motor neuron disease. It is caused by variants in the IGHMBP2 gene. Clinically, it presents with respiratory failure due to diaphragmatic paralysis, progressive muscle weakness starting in the distal parts of the limbs, dysphagia, and damage to sensory and autonomic nerves. Unlike...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to DNA-Binding Proteins
Share to Infant

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Infant, Newborn

Share to Muscular Atrophy, Spinal

Share to Mutation

Share to Respiratory Distress Syndrome, Newborn

Share to Transcription Factors

Source

Open in PubMed Open full text

Identifiers

PMID: 39202358
DOI: 10.3390/genes15080997
PMCID: PMC11353554

Provenance

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

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

The Clinical Heterogeneity of Spinal Muscular Atrophy with Respiratory Distress Type 1 (SMARD1)-A Report of Three Cases, Including Twins.PMID 39202358Read ↗

The wide spectrum of clinical phenotypes of spinal muscular atrophy with respiratory distress type 1: a systematic review.Semantic proximity Read ↗

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

Infantile spinal muscular atrophy with respiratory distress type I presenting without respiratory involvement: Novel mutations and review of the literature.Semantic proximity Read ↗

Spinal Muscular Atrophy with Respiratory Distress<br /> Type 1: A Novel Variant of IGHMBP2 Gene.Semantic proximity Read ↗

Allelic heterogeneity of SMARD1 at the IGHMBP2 locus.Semantic proximity Read ↗

An atypical phenotype of a patient with infantile spinal muscular atrophy with respiratory distress type 1 (SMARD 1).Semantic proximity Read ↗

Severe phenotypes of SMARD1 associated with novel mutations of the IGHMBP2 gene and nuclear degeneration of muscle and Schwann cells.Semantic proximity Read ↗

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

Clinical and molecular features and therapeutic perspectives of spinal muscular atrophy with respiratory distress type 1Semantic proximity Read ↗

Growing up with spinal muscular atrophy with respiratory distress (SMARD1).Semantic proximity Read ↗

One novel and one recurrent mutation in IGHMBP2 gene, causing severe spinal muscular atrophy respiratory distress 1 with onset soon after birth.Semantic proximity Read ↗

Respiratory failure in infants due to spinal muscular atrophy with respiratory distress type 1.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.