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Adult-onset nemaline myopathy

MedGen UID:
154264
•Concept ID:
C0546123
•
Disease or Syndrome
Synonyms: Adult Onset Nemaline Myopathy; Nemaline Myopathy, Adult Onset
SNOMED CT: Nemaline myopathy, late onset type (129622008); Adult-onset nemaline myopathy (129622008)
Modes of inheritance:
Not genetically inherited
MedGen UID:
988794
•Concept ID:
CN307044
•
Finding
Source: Orphanet
clinical entity without genetic inheritance.
See: This record
Not genetically inherited (Orphanet)
 
Monarch Initiative: MONDO:0015739
Orphanet: ORPHA171442

Definition

A rapidly progressive type of nemaline myopathy (NM) characterized by a very late onset. [from ORDO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVAdult-onset nemaline myopathy
Follow this link to review classifications for Adult-onset nemaline myopathy in Orphanet.

Professional guidelines

PubMed

Chemotherapy-based approach is the preferred treatment for sporadic late-onset nemaline myopathy with a monoclonal protein.
Kotchetkov R, Susman D, Bhutani D, Broch K, Dispenzieri A, Buadi FK
Int J Cancer 2021 Jun 1;148(11):2807-2814. Epub 2021 Feb 12 doi: 10.1002/ijc.33483. PMID: 33529362
Sporadic late-onset nemaline myopathy: Clinical spectrum, survival, and treatment outcomes.
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
Prenatal diagnosis of congenital myopathies and muscular dystrophies.
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

Recent clinical studies

Etiology

Adult-onset nemaline myopathy presenting as respiratory failure.
Kelly E, Farrell MA, McElvaney NG
Respir Care 2008 Nov;53(11):1490-4. PMID: 18957152

Diagnosis

Adult-onset Nemaline Myopathy Coexisting With Myasthenia Gravis: A Case Report.
Cao L, Wang Y, Liu X, Hu Y, Li N, Qiu G, Luo Y, Li W
Medicine (Baltimore) 2016 Jan;95(4):e2527. doi: 10.1097/MD.0000000000002527. PMID: 26825889Free PMC Article
Diagnosis of muscle diseases presenting with early respiratory failure.
Pfeffer G, Povitz M, Gibson GJ, Chinnery PF
J Neurol 2015 May;262(5):1101-14. Epub 2014 Nov 7 doi: 10.1007/s00415-014-7526-1. PMID: 25377282
Adult-onset nemaline myopathy and monoclonal gammopathy.
Keller CE, Hays AP, Rowland LP, Moghadaszadeh B, Beggs AH, Bhagat G
Arch Neurol 2006 Jan;63(1):132-4. doi: 10.1001/archneur.63.1.132. PMID: 16401746
Adult-onset nemaline myopathy: Another cause of dropped head.
Lomen-Hoerth C, Simmons ML, Dearmond SJ, Layzer RB
Muscle Nerve 1999 Aug;22(8):1146-50. doi: 10.1002/(sici)1097-4598(199908)22:8<1146::aid-mus23>3.0.co;2-u. PMID: 10417802
Adult-onset nemaline myopathy: a case report and review of the literature.
Gyure KA, Prayson RA, Estes ML
Arch Pathol Lab Med 1997 Nov;121(11):1210-3. PMID: 9372751

Therapy

Adult nemaline myopathy with trabecular muscle fibers.
Irodenko VS, Lee HS, de Armond SJ, Layzer RB
Muscle Nerve 2009 Jun;39(6):871-5. doi: 10.1002/mus.21190. PMID: 19229965
Adult-onset nemaline myopathy and monoclonal gammopathy: a case report.
Deconinck N, Laterre EC, Van den Bergh PY
Acta Neurol Belg 2000 Mar;100(1):34-40. PMID: 10779860

Prognosis

Adult-onset nemaline myopathy presenting as respiratory failure.
Kelly E, Farrell MA, McElvaney NG
Respir Care 2008 Nov;53(11):1490-4. PMID: 18957152
Nemaline myopathy: a clinical study of 143 cases.
Ryan MM, Schnell C, Strickland CD, Shield LK, Morgan G, Iannaccone ST, Laing NG, Beggs AH, North KN
Ann Neurol 2001 Sep;50(3):312-20. doi: 10.1002/ana.1080. PMID: 11558787

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