Congenital structural myopathy

MedGen UID:: 156050
•Concept ID:: C0752282
•: Disease or Syndrome

Synonyms:	Congenital Non Progressive Myopathies; Congenital Non-Progressive Myopathies; Congenital Non-Progressive Myopathy; Congenital Structural Myopathies; Congenital Structural Myopathy; Myopathies, Congenital Non-Progressive; Myopathies, Congenital Structural; Myopathies, Myotubular; Myopathies, Structural, Congenital; Myopathy, Congenital Non-Progressive; Myopathy, Congenital Structural; Myopathy, Myotubular; Myotubular Myopathies; Myotubular Myopathy; Non Progressive Myopathies, Congenital; Non-Progressive Myopathies, Congenital; Non-Progressive Myopathy, Congenital; Structural Myopathies, Congenital; Structural Myopathy, Congenital

Monarch Initiative:	MONDO:0002921

Definition

A group of rare genetic muscle disorders characterized by hypotonia, muscle weakness, and delayed development of motor skills. [from NCI]

Term Hierarchy

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVCongenital structural myopathy

Phenotypic abnormality
- Abnormality of the musculoskeletal system
  - Abnormality of the musculature
    - Abnormal skeletal muscle morphology
      - Myopathy
        Congenital structural myopathy
        Autosomal dominant centronuclear myopathy
        Central core myopathy
        Inborn mitochondrial myopathy
        3-Methylglutaconic aciduria type 2
        Adenosine monophosphate deaminase deficiency
        Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy
        Autosomal dominant mitochondrial myopathy with exercise intolerance
        Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome
        Juvenile myopathy, encephalopathy, lactic acidosis AND stroke
        Kearns-Sayre syndrome
        Lethal infantile mitochondrial myopathy
        Maternally-inherited progressive external ophthalmoplegia
        MERRF syndrome
        Mitochondrial complex I deficiency
        Mitochondrial complex 1 deficiency, mitochondrial type 1
        Mitochondrial complex I deficiency, nuclear type 1
        Mitochondrial complex II deficiency, nuclear type 1
        Mitochondrial DNA deletion syndrome with progressive myopathy
        Mitochondrial DNA depletion syndrome 11
        Mitochondrial DNA depletion syndrome, myopathic form
        Mitochondrial encephalomyopathy
        Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome
        Mitochondrial myopathy-lactic acidosis-deafness syndrome
        Mitochondrial neurogastrointestinal encephalomyopathy
        Mitochondrial trifunctional protein deficiency
        Myopathy, lactic acidosis, and sideroblastic anemia
        Myopathy, lactic acidosis, and sideroblastic anemia 1
        Myopathy, lactic acidosis, and sideroblastic anemia 2
        Progressive external ophthalmoplegia
        Autosomal dominant progressive external ophthalmoplegia
        Autosomal recessive progressive external ophthalmoplegia
        Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4
        Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
        Nemaline myopathy
        Actin accumulation myopathy
        Adult-onset nemaline myopathy
        Childhood-onset nemaline myopathy
        Congenital myopathy 23
        Congenital myopathy 4B, autosomal recessive
        Intermediate nemaline myopathy
        Nemaline myopathy 2
        Nemaline myopathy 5
        Nemaline myopathy 6
        Nemaline myopathy 7
        Nemaline myopathy 8
        Severe congenital nemaline myopathy
        Typical nemaline myopathy
        Severe X-linked myotubular myopathy

Professional guidelines

PubMed

Common Pathogenic Mechanisms in Centronuclear and Myotubular Myopathies and Latest Treatment Advances.

Gómez-Oca R, Cowling BS, Laporte J
Int J Mol Sci 2021 Oct 21;22(21) doi: 10.3390/ijms222111377. PMID: 34768808 Free PMC Article

The Phenotype and Genotype of Congenital Myopathies Based on a Large Pediatric Cohort.

Natera-de Benito D, Ortez C, Jou C, Jimenez-Mallebrera C, Codina A, Carrera-García L, Expósito-Escudero J, Cesar S, Martorell L, Gallano P, Gonzalez-Quereda L, Cuadras D, Colomer J, Yubero D, Palau F, Nascimento A
Pediatr Neurol 2021 Feb;115:50-65. Epub 2020 Nov 5 doi: 10.1016/j.pediatrneurol.2020.11.002. PMID: 33333461

Tubular aggregate myopathy and Stormorken syndrome: Mutation spectrum and genotype/phenotype correlation.

Morin G, Biancalana V, Echaniz-Laguna A, Noury JB, Lornage X, Moggio M, Ripolone M, Violano R, Marcorelles P, Maréchal D, Renaud F, Maurage CA, Tard C, Cuisset JM, Laporte J, Böhm J
Hum Mutat 2020 Jan;41(1):17-37. Epub 2019 Sep 15 doi: 10.1002/humu.23899. PMID: 31448844

See all (38)

Recent clinical studies

Clinical prediction guides

Congenital fiber-type disproportion in an ambulatory rehabilitation setting : A case report.

Palma S, Keilani M, Hasenoehrl T, Ambrozy C, Dana S, Sycha T, Crevenna R
Wien Med Wochenschr 2018 Oct;168(13-14):367-373. Epub 2017 Jul 25 doi: 10.1007/s10354-017-0580-4. PMID: 28744779

See all (1)

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Congenital structural myopathy

Definition

Term Hierarchy

Professional guidelines

PubMed

Recent clinical studies

Clinical prediction guides

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