MCID: ADL068
MIFTS: 24

Adult-Onset Nemaline Myopathy

Categories: Bone diseases, Fetal diseases, Genetic diseases, Muscle diseases, Neuronal diseases, Rare diseases, Respiratory diseases
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Aliases & Classifications for Adult-Onset Nemaline Myopathy

MalaCards integrated aliases for Adult-Onset Nemaline Myopathy:

Name: Adult-Onset Nemaline Myopathy 19 58
Adult Onset Nemaline Myopathy 71

Characteristics:


Age Of Onset:

Adult 58

Classifications:

Orphanet: 58  
Rare neurological diseases


External Ids:

ICD10 via Orphanet 32 G71.2
UMLS via Orphanet 72 C0546123
Orphanet 58 ORPHA171442
UMLS 71 C0546123

Summaries for Adult-Onset Nemaline Myopathy

GARD: 19 A rapidly progressive type of nemaline myopathy (NM) characterized by a very late onset.

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

Orphanet: 58 A rapidly progressive type of nemaline myopathy (NM) characterized by a very late onset.

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:

58 30 (show all 29)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 emg: myopathic abnormalities 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0003458
2 nemaline bodies 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0003798
3 type 1 muscle fiber predominance 58 30 Frequent (33%) Frequent (79-30%)
HP:0003803
4 myalgia 58 30 Frequent (33%) Frequent (79-30%)
HP:0003326
5 increased muscle lipid content 58 30 Frequent (33%) Frequent (79-30%)
HP:0009058
6 increased variability in muscle fiber diameter 58 30 Frequent (33%) Frequent (79-30%)
HP:0003557
7 upper limb muscle weakness 58 30 Frequent (33%) Frequent (79-30%)
HP:0003484
8 bradykinesia 58 30 Frequent (33%) Frequent (79-30%)
HP:0002067
9 paraproteinemia 58 30 Frequent (33%) Frequent (79-30%)
HP:0031047
10 neck flexor weakness 58 30 Frequent (33%) Frequent (79-30%)
HP:0003722
11 high palate 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000218
12 flexion contracture 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001371
13 micrognathia 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000347
14 dilated cardiomyopathy 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001644
15 respiratory insufficiency due to muscle weakness 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002747
16 muscle stiffness 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0003552
17 bulbar signs 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002483
18 narrow face 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000275
19 long face 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000276
20 hyporeflexia 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001265
21 feeding difficulties 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0011968
22 difficulty walking 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002355
23 lower limb muscle weakness 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0007340
24 muscle fibrillation 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0010546
25 reduced vital capacity 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002792
26 neuromuscular dysphagia 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002068
27 mildly elevated creatine kinase 58 30 Very rare (1%) Very rare (<4-1%)
HP:0008180
28 myopathy 58 Very frequent (99-80%)
29 poor fine motor coordination 58 Excluded (0%)

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

Organs/tissues related to Adult-Onset Nemaline Myopathy:

MalaCards : Heart

Publications for Adult-Onset Nemaline Myopathy

Articles related to Adult-Onset Nemaline Myopathy:

(show all 28)
# Title Authors PMID Year
1
Adult-onset nemaline myopathy due to a novel homozygous variant in the TNNT1 gene. 62
35833674 2022
2
A patient with slowly progressive adult-onset nemaline myopathy and novel compound heterozygous mutations in the nebulin gene. 62
28131200 2017
3
Adult-onset Nemaline Myopathy Coexisting With Myasthenia Gravis: A Case Report. 62
26825889 2016
4
Diagnosis of muscle diseases presenting with early respiratory failure. 62
25377282 2015
5
On a case of respiratory failure due to diaphragmatic paralysis and dilated cardiomyopathy in a patient with nemaline myopathy. 62
23620652 2012
6
Adult-onset nemaline myopathy in a dog presenting with persistent atrial standstill and primary hypothyroidism. 62
22647214 2012
7
Adult nemaline myopathy with trabecular muscle fibers. 62
19229965 2009
8
[Adult-onset nemaline myopathy with distal muscle atrophy--case report]. 62
19526838 2009
9
Idiopathic adult-onset nemaline myopathy presenting with isolated respiratory failure. 62
19208402 2009
10
[Nemaline myopathy detected with respiratory failure and right ventricular heart failure]. 62
19260542 2009
11
Adult-onset nemaline myopathy presenting as respiratory failure. 62
18957152 2008
12
Editorial comment: HIV-associated adult-onset nemaline myopathy. 62
18330039 2008
13
[Adult onset nemaline myopathy revealed by respiratory insufficiency]. 62
17151520 2006
14
Adult-onset nemaline myopathy and monoclonal gammopathy. 62
16401746 2006
15
Isolated dropped head due to adult-onset nemaline myopathy treated by posterior fusion. 62
16275851 2005
16
Nemaline myopathy: a clinical study of 143 cases. 62
11558787 2001
17
[Adult onset nemaline myopathy and monoclonal gammopathy]. 62
11555970 2001
18
[Congenital nemaline myopathy with mitochondrial abnormalities. An adult case report]. 62
11002727 2000
19
Adult-onset nemaline myopathy and monoclonal gammopathy: a case report. 62
10779860 2000
20
Adult-onset nemaline myopathy: Another cause of dropped head. 62
10417802 1999
21
Distinct light microscopic changes in human immunodeficiency virus-associated nemaline myopathy. 62
9484391 1998
22
Adult-onset nemaline myopathy: a case report and review of the literature. 62
9372751 1997
23
[A patient of late-onset nemaline myopathy with mononuclear cell infiltration]. 62
7834955 1994
24
Adult onset nemaline myopathy: a distinct nosologic entity? 62
8391957 1993
25
[A case of adult-onset nemaline myopathy (adult-onset rod disease) with distal muscular hypertrophy]. 62
1657478 1991
26
[Clinical and pathological studies on two patients with adult-onset nemaline myopathy]. 62
2173650 1990
27
[Adult onset nemaline myopathy--a case report]. 62
2851401 1988
28
Adult onset nemaline myopathy. 62
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

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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