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 disease
        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
        Kearns-Sayre syndrome
        Lethal infantile mitochondrial myopathy
        Maternally-inherited progressive external ophthalmoplegia
        MELAS syndrome
        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

Myotilinopathy unmasked by statin treatment: A case report.

Ramos-Fransi A, Martínez-Piñeiro A, Almendrote M, Lucente G, Carrato C, Ballester-Lopez A, Lucia A, Pintos-Morell G, Nogales-Gadea G, Coll-Cantí J
Muscle Nerve 2018 Jun;57(6):E138-E140. Epub 2018 Feb 2 doi: 10.1002/mus.26078. PMID: 29350769

Clinical utility gene card for: Nemaline myopathy - update 2015.

Nowak KJ, Davis MR, Wallgren-Pettersson C, Lamont PJ, Laing NG
Eur J Hum Genet 2015 Nov;23(11) Epub 2015 Feb 25 doi: 10.1038/ejhg.2015.12. PMID: 25712079 Free PMC Article

Clinical utility gene card for: nemaline myopathy.

Nowak KJ, Davis MR, Wallgren-Pettersson C, Lamont PJ, Laing NG
Eur J Hum Genet 2012 Jun;20(6) Epub 2012 Apr 18 doi: 10.1038/ejhg.2012.70. PMID: 22510848 Free PMC Article

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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

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Congenital structural myopathy

Definition

Term Hierarchy

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PubMed

Recent clinical studies

Clinical prediction guides

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