MCID: ADL068
MIFTS: 25

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 54 60
Adult Onset Nemaline Myopathy 74

Characteristics:

Orphanet epidemiological data:

60
adult-onset nemaline myopathy
Inheritance: Not applicable; Age of onset: Adult; Age of death: adult;

Classifications:

Orphanet: 60  
Rare neurological diseases


Summaries for Adult-Onset Nemaline Myopathy

NIH Rare Diseases : 54 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 171442Disease definitionAdult-onset nemaline myopathy is a rapidly progressive type of nemaline myopathy (NM; see this term) characterized by a very late onset.EpidemiologyThe annual incidence of NM has been estimated at 1/50,000 live births. Adult-onset NM represents 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. 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:

60 33 (show all 30)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 emg: myopathic abnormalities 60 33 hallmark (90%) Very frequent (99-80%) HP:0003458
2 nemaline bodies 60 33 hallmark (90%) Very frequent (99-80%) HP:0003798
3 myalgia 60 33 frequent (33%) Frequent (79-30%) HP:0003326
4 type 1 muscle fiber predominance 60 33 frequent (33%) Frequent (79-30%) HP:0003803
5 bradykinesia 60 33 frequent (33%) Frequent (79-30%) HP:0002067
6 increased variability in muscle fiber diameter 60 33 frequent (33%) Frequent (79-30%) HP:0003557
7 neck flexor weakness 60 33 frequent (33%) Frequent (79-30%) HP:0003722
8 increased muscle lipid content 60 33 frequent (33%) Frequent (79-30%) HP:0009058
9 upper limb muscle weakness 60 33 frequent (33%) Frequent (79-30%) HP:0003484
10 paraproteinemia 60 33 frequent (33%) Frequent (79-30%) HP:0031047
11 high palate 60 33 occasional (7.5%) Occasional (29-5%) HP:0000218
12 flexion contracture 60 33 occasional (7.5%) Occasional (29-5%) HP:0001371
13 respiratory insufficiency due to muscle weakness 60 33 occasional (7.5%) Occasional (29-5%) HP:0002747
14 micrognathia 60 33 occasional (7.5%) Occasional (29-5%) HP:0000347
15 feeding difficulties 60 33 occasional (7.5%) Occasional (29-5%) HP:0011968
16 dilated cardiomyopathy 60 33 occasional (7.5%) Occasional (29-5%) HP:0001644
17 muscle stiffness 60 33 occasional (7.5%) Occasional (29-5%) HP:0003552
18 bulbar signs 60 33 occasional (7.5%) Occasional (29-5%) HP:0002483
19 narrow face 60 33 occasional (7.5%) Occasional (29-5%) HP:0000275
20 long face 60 33 occasional (7.5%) Occasional (29-5%) HP:0000276
21 difficulty walking 60 33 occasional (7.5%) Occasional (29-5%) HP:0002355
22 hyporeflexia 60 33 occasional (7.5%) Occasional (29-5%) HP:0001265
23 reduced vital capacity 60 33 occasional (7.5%) Occasional (29-5%) HP:0002792
24 neuromuscular dysphagia 60 33 occasional (7.5%) Occasional (29-5%) HP:0002068
25 lower limb muscle weakness 60 33 occasional (7.5%) Occasional (29-5%) HP:0007340
26 muscle fibrillation 60 33 occasional (7.5%) Occasional (29-5%) HP:0010546
27 mildly elevated creatine kinase 33 very rare (1%) HP:0008180
28 myopathy 60 Very frequent (99-80%)
29 poor fine motor coordination 60 Excluded (0%)
30 mildly elevated creatine phosphokinase 60 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

Publications for Adult-Onset Nemaline Myopathy

Articles related to Adult-Onset Nemaline Myopathy:

(show all 14)
# Title Authors Year
1
A patient with slowly progressive adult-onset nemaline myopathy and novel compound heterozygous mutations in the nebulin gene. ( 28131200 )
2017
2
Adult-onset Nemaline Myopathy Coexisting With Myasthenia Gravis: A Case Report. ( 26825889 )
2016
3
Adult-onset nemaline myopathy in a dog presenting with persistent atrial standstill and primary hypothyroidism. ( 22647214 )
2012
4
Idiopathic adult-onset nemaline myopathy presenting with isolated respiratory failure. ( 19208402 )
2009
5
[Adult-onset nemaline myopathy with distal muscle atrophy--case report]. ( 19526838 )
2009
6
Adult-onset nemaline myopathy presenting as respiratory failure. ( 18957152 )
2008
7
Editorial comment: HIV-associated adult-onset nemaline myopathy. ( 18330039 )
2008
8
Adult-onset nemaline myopathy and monoclonal gammopathy. ( 16401746 )
2006
9
Isolated dropped head due to adult-onset nemaline myopathy treated by posterior fusion. ( 16275851 )
2005
10
Adult-onset nemaline myopathy and monoclonal gammopathy: a case report. ( 10779860 )
2000
11
Adult-onset nemaline myopathy: Another cause of dropped head. ( 10417802 )
1999
12
Adult-onset nemaline myopathy: a case report and review of the literature. ( 9372751 )
1997
13
Adult onset nemaline myopathy: a distinct nosologic entity? ( 8391957 )
1993
14
Adult onset nemaline myopathy. ( 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

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