Adult-Onset Nemaline Myopathy disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

MCID: ADL068 MIFTS: 25	Adult-Onset Nemaline Myopathy Categories: Bone diseases, Fetal diseases, Genetic diseases, Muscle diseases, Neuronal diseases, Rare diseases
Tissues Related diseases Publications Symptoms & Phenotypes Expand all tables

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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:

MalaCards categories:
Global: Rare diseases Genetic diseases Fetal diseases
Anatomical: Neuronal diseases Muscle diseases Bone diseases

See all MalaCards categories (disease lists)

ICD10: ³⁵

Diseases of the nervous system

Diseases of myoneural junction and muscle

Primary disorders of muscles

Congenital myopathies

Orphanet: ⁶⁰

Rare neurological diseases

External Ids:

ICD10 via Orphanet ³⁵ G71.2

UMLS via Orphanet ⁷⁵ C0546123

Orphanet ⁶⁰ ORPHA171442

UMLS ⁷⁴ C0546123

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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. Affiliated tissues include bone, and related phenotypes are emg: myopathic abnormalities and nemaline bodies

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Related Diseases for Adult-Onset Nemaline Myopathy

Diseases in the Nemaline Myopathy family:

Nemaline Myopathy 3	Nemaline Myopathy 2
Nemaline Myopathy 5	Nemaline Myopathy 6
Nemaline Myopathy 1	Nemaline Myopathy 4
Nemaline Myopathy 7	Nemaline Myopathy 8
Nemaline Myopathy 9	Nemaline Myopathy 10
Nemaline Myopathy 11, Autosomal Recessive	Adult-Onset Nemaline Myopathy
Intermediate Congenital Nemaline Myopathy	Severe Congenital Nemaline Myopathy

Diseases related to Adult-Onset Nemaline Myopathy via text searches within MalaCards or GeneCards Suite gene sharing:

#	Related Disease	Score
1	nemaline myopathy 3	11.4
2	nemaline myopathy	10.7
3	myopathy	10.7
4	muscle disorders	10.5
5	respiratory failure	10.3
6	myasthenia gravis	10.2
7	hypothyroidism	10.2
8	myasthenia gravis congenital	10.2
9	atrial standstill	10.2

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

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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%)

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Drugs & Therapeutics for Adult-Onset Nemaline Myopathy

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

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Genetic Tests for Adult-Onset Nemaline Myopathy

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Anatomical Context for Adult-Onset Nemaline Myopathy

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

⁴²

Bone

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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 )	Tsunoda K...Abe K	2017
2	Adult-onset Nemaline Myopathy Coexisting With Myasthenia Gravis: A Case Report. ( 26825889 )	Cao L...Li W	2016
3	Adult-onset nemaline myopathy in a dog presenting with persistent atrial standstill and primary hypothyroidism. ( 22647214 )	Nakamura RK...Shelton GD	2012
4	Idiopathic adult-onset nemaline myopathy presenting with isolated respiratory failure. ( 19208402 )	Whitaker J...Plummeridge M	2009
5	[Adult-onset nemaline myopathy with distal muscle atrophy--case report]. ( 19526838 )	Niwa F...Nakagawa M	2009
6	Editorial comment: HIV-associated adult-onset nemaline myopathy. ( 18330039 )	Mani D...Aboulafia DM	2008
7	Adult-onset nemaline myopathy presenting as respiratory failure. ( 18957152 )	Kelly E...McElvaney NG	2008
8	Adult-onset nemaline myopathy and monoclonal gammopathy. ( 16401746 )	Keller CE...Bhagat G	2006
9	Isolated dropped head due to adult-onset nemaline myopathy treated by posterior fusion. ( 16275851 )	Katirji B...Bohlman HH	2005
10	Adult-onset nemaline myopathy and monoclonal gammopathy: a case report. ( 10779860 )	Deconinck N...Van den Bergh PY	2000
11	Adult-onset nemaline myopathy: Another cause of dropped head. ( 10417802 )	Lomen-Hoerth C...Layzer RB	1999
12	Adult-onset nemaline myopathy: a case report and review of the literature. ( 9372751 )	Gyure KA...Estes ML	1997
13	Adult onset nemaline myopathy: a distinct nosologic entity? ( 8391957 )	Palmucci L...Chiad?-Piat L	1993
14	Adult onset nemaline myopathy. ( 569791 )	Brownell AK...Lam AK	1978

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Genes for Adult-Onset Nemaline Myopathy

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Variations for Adult-Onset Nemaline Myopathy

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Expression for Adult-Onset Nemaline Myopathy

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

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Pathways for Adult-Onset Nemaline Myopathy

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GO Terms for Adult-Onset Nemaline Myopathy

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Sources for Adult-Onset Nemaline Myopathy

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