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Nemaline myopathy

MedGen UID:
61528
Concept ID:
C0206157
Disease or Syndrome
Synonyms: Myopathies, Nemaline; Rod myopathy
SNOMED CT: Nemaline myopathy (75072002); Nemaline body disease (75072002); Rod myopathy (75072002); Rod-body myopathy (75072002)
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 dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
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 heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
Not genetically inherited
MedGen UID:
988794
Concept ID:
CN307044
Finding
Source: Orphanet
clinical entity without genetic inheritance.
 
Related genes: KBTBD13, KLHL40, TPM3, TPM2, TNNT1, NEB, CFL2, ACTA1
 
Monarch Initiative: MONDO:0018958
OMIM® Phenotypic series: PS161800
Orphanet: ORPHA607

Definition

Nemaline myopathy is a disorder that primarily affects skeletal muscles, which are muscles that the body uses for movement. People with nemaline myopathy have muscle weakness (myopathy) throughout the body, but it is typically most severe in the muscles of the face; neck; trunk; and other muscles close to the center of the body (proximal muscles), such as those of the upper arms and legs. This weakness can worsen over time. Affected individuals may have feeding and swallowing difficulties, foot deformities, abnormal curvature of the spine (scoliosis), and joint deformities (contractures). Most people with nemaline myopathy are able to walk, although some affected children may begin walking later than usual. As the condition progresses, some people may require wheelchair assistance. In severe cases, the muscles used for breathing are affected and life-threatening breathing difficulties can occur.

Nemaline myopathy is divided into six types. In order of decreasing severity, the types are: severe congenital, Amish, intermediate congenital, typical congenital, childhood-onset, and adult-onset. The types are distinguished by the age when symptoms first appear and the severity of symptoms; however, there is overlap among the various types. The severe congenital type is the most life-threatening. Most individuals with this type do not survive past early childhood due to respiratory failure. The Amish type solely affects the Old Order Amish population of Pennsylvania and is typically fatal in early childhood. The most common type of nemaline myopathy is the typical congenital type, which is characterized by muscle weakness and feeding problems beginning in infancy. Most of these individuals do not have severe breathing problems and can walk unassisted. People with the childhood-onset type usually develop muscle weakness in adolescence. The adult-onset type is the mildest of all the various types. People with this type usually develop muscle weakness between ages 20 and 50. [from MedlinePlus Genetics]

Professional guidelines

PubMed

Scheibe F, Ostendorf L, Prüss H, Radbruch H, Aschman T, Hoffmann S, Blau IW, Meisel C, Alexander T, Meisel A
Eur J Neurol 2022 Jun;29(6):1847-1854. Epub 2022 Feb 10 doi: 10.1111/ene.15266. PMID: 35098616
Naddaf E, Milone M, Kansagra A, Buadi F, Kourelis T
Neurology 2019 Jul 16;93(3):e298-e305. Epub 2019 Jun 5 doi: 10.1212/WNL.0000000000007777. PMID: 31167932
Massalska D, Zimowski JG, Bijok J, Kucińska-Chahwan A, Łusakowska A, Jakiel G, Roszkowski T
Clin Genet 2016 Sep;90(3):199-210. Epub 2016 Jun 2 doi: 10.1111/cge.12801. PMID: 27197572

Curated

American College of Medical Genetics ACT Sheet, Carrier Screening ACT Sheet Ashkenazi Jewish Genetic Disorders

Recent clinical studies

Etiology

Sewry CA, Laitila JM, Wallgren-Pettersson C
J Muscle Res Cell Motil 2019 Jun;40(2):111-126. Epub 2019 Jun 21 doi: 10.1007/s10974-019-09519-9. PMID: 31228046Free PMC Article
Jungbluth H, Muntoni F
Semin Pediatr Neurol 2019 Apr;29:71-82. Epub 2019 Jan 16 doi: 10.1016/j.spen.2019.01.004. PMID: 31060727
Romero NB, Clarke NF
Handb Clin Neurol 2013;113:1321-36. doi: 10.1016/B978-0-444-59565-2.00004-6. PMID: 23622357
D'Amico A, Bertini E
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Goebel HH
Semin Pediatr Neurol 1996 Jun;3(2):152-61. doi: 10.1016/s1071-9091(96)80043-x. PMID: 8795848

Diagnosis

Younger DS
Handb Clin Neurol 2023;195:533-561. doi: 10.1016/B978-0-323-98818-6.00027-3. PMID: 37562885
Ogasawara M, Nishino I
Neuromuscul Disord 2021 Oct;31(10):968-977. Epub 2021 Sep 17 doi: 10.1016/j.nmd.2021.08.015. PMID: 34627702
Sewry CA, Laitila JM, Wallgren-Pettersson C
J Muscle Res Cell Motil 2019 Jun;40(2):111-126. Epub 2019 Jun 21 doi: 10.1007/s10974-019-09519-9. PMID: 31228046Free PMC Article
Romero NB, Clarke NF
Handb Clin Neurol 2013;113:1321-36. doi: 10.1016/B978-0-444-59565-2.00004-6. PMID: 23622357
Wallgren-Pettersson C, Sewry CA, Nowak KJ, Laing NG
Semin Pediatr Neurol 2011 Dec;18(4):230-8. doi: 10.1016/j.spen.2011.10.004. PMID: 22172418

Therapy

van Kleef ESB, Langer D, van Engelen BGM, Ottenheijm CAC, Voermans NC, Doorduin J
J Neuromuscul Dis 2023;10(5):825-834. doi: 10.3233/JND-221665. PMID: 37458044Free PMC Article
Yuen M, Ottenheijm CAC
J Muscle Res Cell Motil 2020 Mar;41(1):103-124. Epub 2020 Jan 25 doi: 10.1007/s10974-019-09565-3. PMID: 31982973Free PMC Article
Jungbluth H, Muntoni F
Semin Pediatr Neurol 2019 Apr;29:71-82. Epub 2019 Jan 16 doi: 10.1016/j.spen.2019.01.004. PMID: 31060727
Jungbluth H, Ochala J, Treves S, Gautel M
Semin Cell Dev Biol 2017 Apr;64:191-200. Epub 2016 Aug 8 doi: 10.1016/j.semcdb.2016.08.004. PMID: 27515125
Gherardi RK
Neuropathol Appl Neurobiol 1994 Jun;20(3):232-7. doi: 10.1111/j.1365-2990.1994.tb00964.x. PMID: 7936072

Prognosis

Younger DS
Handb Clin Neurol 2023;195:533-561. doi: 10.1016/B978-0-323-98818-6.00027-3. PMID: 37562885
Bester EG, Kitshoff AM, Botha WJ, Van Wilpe E, Du Plessis L, Williams J
J S Afr Vet Assoc 2022 Jun;93(1):38a-38h. PMID: 35950808
Amburgey K, Acker M, Saeed S, Amin R, Beggs AH, Bönnemann CG, Brudno M, Constantinescu A, Dastgir J, Diallo M, Genetti CA, Glueck M, Hewson S, Hum C, Jain MS, Lawlor MW, Meyer OH, Nelson L, Sultanum N, Syed F, Tran T, Wang CH, Dowling JJ
Neurology 2021 Mar 9;96(10):e1425-e1436. Epub 2021 Jan 4 doi: 10.1212/WNL.0000000000011458. PMID: 33397769Free PMC Article
Sewry CA, Laitila JM, Wallgren-Pettersson C
J Muscle Res Cell Motil 2019 Jun;40(2):111-126. Epub 2019 Jun 21 doi: 10.1007/s10974-019-09519-9. PMID: 31228046Free PMC Article
Moreno CAM, Abath Neto O, Donkervoort S, Hu Y, Reed UC, Oliveira ASB, Bönnemann C, Zanoteli E
Pediatr Neurol 2017 Oct;75:11-16. Epub 2017 Apr 7 doi: 10.1016/j.pediatrneurol.2017.04.002. PMID: 28780987

Clinical prediction guides

Gurgel-Giannetti J, Souza LS, Yamamoto GL, Belisario M, Lazar M, Campos W, Pavanello RCM, Zatz M, Reed U, Zanoteli E, Oliveira AB, Lehtokari VL, Casella EB, Machado-Costa MC, Wallgren-Pettersson C, Laing NG, Nigro V, Vainzof M
Int J Mol Sci 2022 Oct 9;23(19) doi: 10.3390/ijms231911995. PMID: 36233295Free PMC Article
Amburgey K, Acker M, Saeed S, Amin R, Beggs AH, Bönnemann CG, Brudno M, Constantinescu A, Dastgir J, Diallo M, Genetti CA, Glueck M, Hewson S, Hum C, Jain MS, Lawlor MW, Meyer OH, Nelson L, Sultanum N, Syed F, Tran T, Wang CH, Dowling JJ
Neurology 2021 Mar 9;96(10):e1425-e1436. Epub 2021 Jan 4 doi: 10.1212/WNL.0000000000011458. PMID: 33397769Free PMC Article
Rudnik-Schöneborn S, Wallgren-Pettersson C
Semin Pediatr Neurol 2019 Apr;29:23-29. Epub 2019 Jan 16 doi: 10.1016/j.spen.2019.01.006. PMID: 31060722
Fox MD, Carson VJ, Feng HZ, Lawlor MW, Gray JT, Brigatti KW, Jin JP, Strauss KA
Hum Mol Genet 2018 Sep 15;27(18):3272-3282. doi: 10.1093/hmg/ddy233. PMID: 29931346Free PMC Article
Moreno CAM, Abath Neto O, Donkervoort S, Hu Y, Reed UC, Oliveira ASB, Bönnemann C, Zanoteli E
Pediatr Neurol 2017 Oct;75:11-16. Epub 2017 Apr 7 doi: 10.1016/j.pediatrneurol.2017.04.002. PMID: 28780987

Recent systematic reviews

Christophers B, Lopez MA, Gupta VA, Vogel H, Baylies M
J Child Neurol 2022 Jun;37(7):652-663. Epub 2022 Jun 7 doi: 10.1177/08830738221096316. PMID: 36960434Free PMC Article

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    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Curated

    • ACMG ACT, 2011
      American College of Medical Genetics ACT Sheet, Carrier Screening ACT Sheet Ashkenazi Jewish Genetic Disorders

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