MCID: ADL068
MIFTS: 22

Adult-Onset Nemaline Myopathy

Categories: Bone diseases, Fetal diseases, Genetic diseases, Muscle diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Adult-Onset Nemaline Myopathy

MalaCards integrated aliases for Adult-Onset Nemaline Myopathy:

Name: Adult-Onset Nemaline Myopathy 53 59
Adult Onset Nemaline Myopathy 72

Characteristics:

Orphanet epidemiological data:

59
adult-onset nemaline myopathy
Inheritance: Not applicable; Age of onset: Adult; Age of death: adult;

Classifications:

Orphanet: 59  
Rare neurological diseases


External Ids:

ICD10 via Orphanet 34 G71.2
UMLS via Orphanet 73 C0546123
Orphanet 59 ORPHA171442
UMLS 72 C0546123

Summaries for Adult-Onset Nemaline Myopathy

NIH Rare Diseases : 53 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 171442DefinitionA rapidly progressive type of nemaline myopathy (NM) characterized by a very late onset.EpidemiologyThe annual incidence of NM has been estimated at 1/50,000 live births. Adult-onset NM represents <5% of total cases.Clinical descriptionAdult onset NM occurs sporadically between 20 and 50 years of age. It presents with a generalized weakness, myalgia and rapid progression. Several cases have been associated with cardiomyopathy, dropped head syndrome and respiratory involvement. Muscle biopsy can reveal inflammatory changes. Monoclonal gammopathy and paresthesiae may be a marker of poor prognosis.Genetic counselingAdult onset NM is usually sporadic and no familial history of neuromuscular diseases is found.Visit the Orphanet disease page for more resources.

MalaCards based summary : Adult-Onset Nemaline Myopathy, also known as adult onset nemaline myopathy, is related to nemaline myopathy 3 and nemaline myopathy. Affiliated tissues include heart, and related phenotypes are emg: myopathic abnormalities and nemaline bodies

Related Diseases for Adult-Onset Nemaline Myopathy

Graphical network of the top 20 diseases related to Adult-Onset Nemaline Myopathy:



Diseases related to Adult-Onset Nemaline Myopathy

Symptoms & Phenotypes for Adult-Onset Nemaline Myopathy

Human phenotypes related to Adult-Onset Nemaline Myopathy:

59 32 (show all 30)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 emg: myopathic abnormalities 59 32 hallmark (90%) Very frequent (99-80%) HP:0003458
2 nemaline bodies 59 32 hallmark (90%) Very frequent (99-80%) HP:0003798
3 myalgia 59 32 frequent (33%) Frequent (79-30%) HP:0003326
4 type 1 muscle fiber predominance 59 32 frequent (33%) Frequent (79-30%) HP:0003803
5 bradykinesia 59 32 frequent (33%) Frequent (79-30%) HP:0002067
6 increased variability in muscle fiber diameter 59 32 frequent (33%) Frequent (79-30%) HP:0003557
7 neck flexor weakness 59 32 frequent (33%) Frequent (79-30%) HP:0003722
8 increased muscle lipid content 59 32 frequent (33%) Frequent (79-30%) HP:0009058
9 upper limb muscle weakness 59 32 frequent (33%) Frequent (79-30%) HP:0003484
10 paraproteinemia 59 32 frequent (33%) Frequent (79-30%) HP:0031047
11 high palate 59 32 occasional (7.5%) Occasional (29-5%) HP:0000218
12 flexion contracture 59 32 occasional (7.5%) Occasional (29-5%) HP:0001371
13 respiratory insufficiency due to muscle weakness 59 32 occasional (7.5%) Occasional (29-5%) HP:0002747
14 micrognathia 59 32 occasional (7.5%) Occasional (29-5%) HP:0000347
15 feeding difficulties 59 32 occasional (7.5%) Occasional (29-5%) HP:0011968
16 dilated cardiomyopathy 59 32 occasional (7.5%) Occasional (29-5%) HP:0001644
17 muscle stiffness 59 32 occasional (7.5%) Occasional (29-5%) HP:0003552
18 bulbar signs 59 32 occasional (7.5%) Occasional (29-5%) HP:0002483
19 narrow face 59 32 occasional (7.5%) Occasional (29-5%) HP:0000275
20 long face 59 32 occasional (7.5%) Occasional (29-5%) HP:0000276
21 difficulty walking 59 32 occasional (7.5%) Occasional (29-5%) HP:0002355
22 hyporeflexia 59 32 occasional (7.5%) Occasional (29-5%) HP:0001265
23 reduced vital capacity 59 32 occasional (7.5%) Occasional (29-5%) HP:0002792
24 neuromuscular dysphagia 59 32 occasional (7.5%) Occasional (29-5%) HP:0002068
25 lower limb muscle weakness 59 32 occasional (7.5%) Occasional (29-5%) HP:0007340
26 muscle fibrillation 59 32 occasional (7.5%) Occasional (29-5%) HP:0010546
27 mildly elevated creatine kinase 32 very rare (1%) HP:0008180
28 myopathy 59 Very frequent (99-80%)
29 poor fine motor coordination 59 Excluded (0%)
30 mildly elevated creatine phosphokinase 59 Very rare (<4-1%)

Drugs & Therapeutics for Adult-Onset Nemaline Myopathy

Search Clinical Trials , NIH Clinical Center for Adult-Onset Nemaline Myopathy

Genetic Tests for Adult-Onset Nemaline Myopathy

Anatomical Context for Adult-Onset Nemaline Myopathy

MalaCards organs/tissues related to Adult-Onset Nemaline Myopathy:

41
Heart

Publications for Adult-Onset Nemaline Myopathy

Articles related to Adult-Onset Nemaline Myopathy:

(show all 27)
# Title Authors PMID Year
1
A patient with slowly progressive adult-onset nemaline myopathy and novel compound heterozygous mutations in the nebulin gene. 38
28131200 2017
2
Adult-onset Nemaline Myopathy Coexisting With Myasthenia Gravis: A Case Report. 38
26825889 2016
3
Diagnosis of muscle diseases presenting with early respiratory failure. 38
25377282 2015
4
On a case of respiratory failure due to diaphragmatic paralysis and dilated cardiomyopathy in a patient with nemaline myopathy. 38
23620652 2012
5
Adult-onset nemaline myopathy in a dog presenting with persistent atrial standstill and primary hypothyroidism. 38
22647214 2012
6
[Adult-onset nemaline myopathy with distal muscle atrophy--case report]. 38
19526838 2009
7
Adult nemaline myopathy with trabecular muscle fibers. 38
19229965 2009
8
Idiopathic adult-onset nemaline myopathy presenting with isolated respiratory failure. 38
19208402 2009
9
[Nemaline myopathy detected with respiratory failure and right ventricular heart failure]. 38
19260542 2009
10
Adult-onset nemaline myopathy presenting as respiratory failure. 38
18957152 2008
11
Editorial comment: HIV-associated adult-onset nemaline myopathy. 38
18330039 2008
12
[Adult onset nemaline myopathy revealed by respiratory insufficiency]. 38
17151520 2006
13
Adult-onset nemaline myopathy and monoclonal gammopathy. 38
16401746 2006
14
Isolated dropped head due to adult-onset nemaline myopathy treated by posterior fusion. 38
16275851 2005
15
Nemaline myopathy: a clinical study of 143 cases. 38
11558787 2001
16
[Adult onset nemaline myopathy and monoclonal gammopathy]. 38
11555970 2001
17
[Congenital nemaline myopathy with mitochondrial abnormalities. An adult case report]. 38
11002727 2000
18
Adult-onset nemaline myopathy and monoclonal gammopathy: a case report. 38
10779860 2000
19
Adult-onset nemaline myopathy: Another cause of dropped head. 38
10417802 1999
20
Distinct light microscopic changes in human immunodeficiency virus-associated nemaline myopathy. 38
9484391 1998
21
Adult-onset nemaline myopathy: a case report and review of the literature. 38
9372751 1997
22
[A patient of late-onset nemaline myopathy with mononuclear cell infiltration]. 38
7834955 1994
23
Adult onset nemaline myopathy: a distinct nosologic entity? 38
8391957 1993
24
[A case of adult-onset nemaline myopathy (adult-onset rod disease) with distal muscular hypertrophy]. 38
1657478 1991
25
[Clinical and pathological studies on two patients with adult-onset nemaline myopathy]. 38
2173650 1990
26
[Adult onset nemaline myopathy--a case report]. 38
2851401 1988
27
Adult onset nemaline myopathy. 38
569791 1978

Variations for Adult-Onset Nemaline Myopathy

Expression for Adult-Onset Nemaline Myopathy

Search GEO for disease gene expression data for Adult-Onset Nemaline Myopathy.

Pathways for Adult-Onset Nemaline Myopathy

GO Terms for Adult-Onset Nemaline Myopathy

Sources for Adult-Onset Nemaline Myopathy

3 CDC
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10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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31 HMDB
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34 ICD10 via Orphanet
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44 MeSH
45 MESH via Orphanet
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51 NDF-RT
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57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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