Childhood-onset progressive contractures-limb-girdle weakness-muscle dystrophy syndrome

MedGen UID:: 1800286
•Concept ID:: C5568863
•: Disease or Syndrome

Synonyms:	Childhood-onset progressive contractures, limb girdle weakness, muscle dystrophy syndrome; childhood-onset progressive contractures-limb-girdle weakness-muscle dystrophy syndrome
SNOMED CT:	Childhood-onset progressive contractures, limb girdle weakness, muscle dystrophy syndrome (1187251009)
Modes of inheritance:	Autosomal recessive inheritance MedGen UID: 141025 •Concept ID: C0441748 • Intellectual Product Source: Orphanet A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele). Autosomal recessive inheritance (Orphanet)

Monarch Initiative:	MONDO:0018759
Orphanet:	ORPHA466921

Definition

A progressive muscular dystrophy with characteristics of co-existence of limb-girdle weakness and diffuse joint contractures without cardiomyopathy. Patients present lower limb weakness progressing to involve also upper limbs and axial muscles and eventually leading to permanent loss of ambulation, widespread joint contractures in the limbs and sometimes the spine and variable respiratory involvement. Morphological changes in muscle biopsies include rimmed vacuoles, increased internal nuclei, cytoplasmic bodies and a dystrophic pattern. [from SNOMEDCT_US]

Term Hierarchy

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVChildhood-onset progressive contractures-limb-girdle weakness-muscle dystrophy syndrome

Progressive muscular dystrophy
- Childhood-onset progressive contractures-limb-girdle weakness-muscle dystrophy syndrome

Recent clinical studies

Etiology

Emery-Dreifuss muscular dystrophy.

Zacharias AS, Wagener ME, Warren ST, Hopkins LC
Semin Neurol 1999;19(1):67-79. doi: 10.1055/s-2008-1040827. PMID: 10711990

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Diagnosis

EGR2 gene-linked hereditary neuropathies present with a bimodal age distribution at symptoms onset.

Echaniz-Laguna A, Cauquil C, Chanson JB, Tard C, Guyant-Marechal L, Kuntzer T, Ion IM, Lia AS, Bouligand J, Poinsignon V
J Peripher Nerv Syst 2023 Sep;28(3):359-367. Epub 2023 Jun 18 doi: 10.1111/jns.12572. PMID: 37306961

Primary mitochondrial myopathies in childhood.

Olimpio C, Tiet MY, Horvath R
Neuromuscul Disord 2021 Oct;31(10):978-987. doi: 10.1016/j.nmd.2021.08.005. PMID: 34736635

A novel, pathogenic dinucleotide deletion in the mitochondrial MT-TY gene causing myasthenia-like features.

Lim AZ, McMacken G, Rastelli F, Oláhová M, Baty K, Hopton S, Falkous G, Töpf A, Lochmüller H, Marini-Bettolo C, McFarland R, Taylor RW
Neuromuscul Disord 2020 Aug;30(8):661-668. Epub 2020 Jun 24 doi: 10.1016/j.nmd.2020.06.008. PMID: 32684384 Free PMC Article

Emery-Dreifuss muscular dystrophy.

Zacharias AS, Wagener ME, Warren ST, Hopkins LC
Semin Neurol 1999;19(1):67-79. doi: 10.1055/s-2008-1040827. PMID: 10711990

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Prognosis

Partial loss of desmin expression due to a leaky splice site variant in the human DES gene is associated with neuromuscular transmission defects.

Polavarapu K, O'Neil D, Thompson R, Spendiff S, Nandeesh B, Vengalil S, Huddar A, Baskar D, Arunachal G, Kotambail A, Bhatia S, Tumulu SK, Matalonga L, Töpf A, Laurie S, Zeldin J, Nashi S, Unnikrishnan G, Nalini A, Lochmüller H
Neuromuscul Disord 2024 Jun;39:10-18. Epub 2024 Mar 22 doi: 10.1016/j.nmd.2024.03.011. PMID: 38669730

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