MCID: ADL068
MIFTS: 23

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 73

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:

Orphanet 59 ORPHA171442
UMLS via Orphanet 74 C0546123
ICD10 via Orphanet 34 G71.2
UMLS 73 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: 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. Affiliated tissues include bone, and related phenotypes are high palate and flexion contracture

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 (show all 29)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 high palate 59 Occasional (29-5%)
2 flexion contracture 59 Occasional (29-5%)
3 myopathy 59 Very frequent (99-80%)
4 respiratory insufficiency due to muscle weakness 59 Occasional (29-5%)
5 micrognathia 59 Occasional (29-5%)
6 feeding difficulties 59 Occasional (29-5%)
7 poor fine motor coordination 59 Excluded (0%)
8 dilated cardiomyopathy 59 Occasional (29-5%)
9 emg: myopathic abnormalities 59 Very frequent (99-80%)
10 myalgia 59 Frequent (79-30%)
11 muscle stiffness 59 Occasional (29-5%)
12 nemaline bodies 59 Very frequent (99-80%)
13 type 1 muscle fiber predominance 59 Frequent (79-30%)
14 bulbar signs 59 Occasional (29-5%)
15 narrow face 59 Occasional (29-5%)
16 long face 59 Occasional (29-5%)
17 difficulty walking 59 Occasional (29-5%)
18 hyporeflexia 59 Occasional (29-5%)
19 mildly elevated creatine phosphokinase 59 Very rare (<4-1%)
20 bradykinesia 59 Frequent (79-30%)
21 increased variability in muscle fiber diameter 59 Frequent (79-30%)
22 neck flexor weakness 59 Frequent (79-30%)
23 reduced vital capacity 59 Occasional (29-5%)
24 neuromuscular dysphagia 59 Occasional (29-5%)
25 increased muscle lipid content 59 Frequent (79-30%)
26 upper limb muscle weakness 59 Frequent (79-30%)
27 paraproteinemia 59 Frequent (79-30%)
28 lower limb muscle weakness 59 Occasional (29-5%)
29 muscle fibrillation 59 Occasional (29-5%)

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
Bone

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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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