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

MCID: ADL068 MIFTS: 22	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

Sources

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:

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

See all MalaCards categories (disease lists)

ICD10: ³⁴

Diseases of the nervous system

Diseases of myoneural junction and muscle

Primary disorders of muscles

Congenital myopathies

Orphanet: ⁵⁹

Rare neurological diseases

External Ids:

ICD10 via Orphanet ³⁴ G71.2

UMLS via Orphanet ⁷³ C0546123

Orphanet ⁵⁹ ORPHA171442

UMLS ⁷² C0546123

Sources

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

Sources

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
Congenital Nemaline Myopathy

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

(show all 17)

#	Related Disease	Score
1	nemaline myopathy 3	11.5
2	nemaline myopathy	10.8
3	myopathy	10.8
4	myasthenia gravis	10.3
5	myopathy, congenital	10.3
6	respiratory failure	10.3
7	neuromuscular disease	10.3
8	amyotrophic lateral sclerosis 1	10.2
9	miyoshi muscular dystrophy	10.2
10	hypothyroidism	10.2
11	lateral sclerosis	10.2
12	myocarditis	10.2
13	47,xyy	10.2
14	fibromatosis	10.2
15	atrial standstill	10.2
16	congenital nemaline myopathy	10.2
17	idiopathic dropped head syndrome	10.2

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

Sources

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%)

Sources

Drugs & Therapeutics for Adult-Onset Nemaline Myopathy

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

Sources

Genetic Tests for Adult-Onset Nemaline Myopathy

Sources

Anatomical Context for Adult-Onset Nemaline Myopathy

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

⁴¹

Heart

Sources

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	Tsunoda K...Abe K	28131200	2017
2	Adult-onset Nemaline Myopathy Coexisting With Myasthenia Gravis: A Case Report. ³⁸	Cao L...Li W	26825889	2016
3	Diagnosis of muscle diseases presenting with early respiratory failure. ³⁸	Pfeffer G...Chinnery PF	25377282	2015
4	On a case of respiratory failure due to diaphragmatic paralysis and dilated cardiomyopathy in a patient with nemaline myopathy. ³⁸	Taglia A...Politano L	23620652	2012
5	Adult-onset nemaline myopathy in a dog presenting with persistent atrial standstill and primary hypothyroidism. ³⁸	Nakamura RK...Shelton GD	22647214	2012
6	[Adult-onset nemaline myopathy with distal muscle atrophy--case report]. ³⁸	Niwa F...Nakagawa M	19526838	2009
7	Adult nemaline myopathy with trabecular muscle fibers. ³⁸	Irodenko VS...Layzer RB	19229965	2009
8	Idiopathic adult-onset nemaline myopathy presenting with isolated respiratory failure. ³⁸	Whitaker J...Plummeridge M	19208402	2009
9	[Nemaline myopathy detected with respiratory failure and right ventricular heart failure]. ³⁸	Ishiguro T...Sugita Y	19260542	2009
10	Adult-onset nemaline myopathy presenting as respiratory failure. ³⁸	Kelly E...McElvaney NG	18957152	2008
11	Editorial comment: HIV-associated adult-onset nemaline myopathy. ³⁸	Mani D...Aboulafia DM	18330039	2008
12	[Adult onset nemaline myopathy revealed by respiratory insufficiency]. ³⁸	Befort P...Pages M	17151520	2006
13	Adult-onset nemaline myopathy and monoclonal gammopathy. ³⁸	Keller CE...Bhagat G	16401746	2006
14	Isolated dropped head due to adult-onset nemaline myopathy treated by posterior fusion. ³⁸	Katirji B...Bohlman HH	16275851	2005
15	Nemaline myopathy: a clinical study of 143 cases. ³⁸	Ryan MM...North KN	11558787	2001
16	[Adult onset nemaline myopathy and monoclonal gammopathy]. ³⁸	Nakagawa M...Hirata K	11555970	2001
17	[Congenital nemaline myopathy with mitochondrial abnormalities. An adult case report]. ³⁸	Oya Y...Kawai M	11002727	2000
18	Adult-onset nemaline myopathy and monoclonal gammopathy: a case report. ³⁸	Deconinck N...Van den Bergh PY	10779860	2000
19	Adult-onset nemaline myopathy: Another cause of dropped head. ³⁸	Lomen-Hoerth C...Layzer RB	10417802	1999
20	Distinct light microscopic changes in human immunodeficiency virus-associated nemaline myopathy. ³⁸	Feinberg DM...Weidenheim KM	9484391	1998
21	Adult-onset nemaline myopathy: a case report and review of the literature. ³⁸	Gyure KA...Estes ML	9372751	1997
22	[A patient of late-onset nemaline myopathy with mononuclear cell infiltration]. ³⁸	Miura H...Nonaka I	7834955	1994
23	Adult onset nemaline myopathy: a distinct nosologic entity? ³⁸	Palmucci L...Chiado-Piat L	8391957	1993
24	[A case of adult-onset nemaline myopathy (adult-onset rod disease) with distal muscular hypertrophy]. ³⁸	Mitsui T...Goto I	1657478	1991
25	[Clinical and pathological studies on two patients with adult-onset nemaline myopathy]. ³⁸	Maruyama T...Nonaka I	2173650	1990
26	[Adult onset nemaline myopathy--a case report]. ³⁸	Wakayama Y...Shibuya S	2851401	1988
27	Adult onset nemaline myopathy. ³⁸	Brownell AK...Lam AK	569791	1978

Sources

Genes for Adult-Onset Nemaline Myopathy

Sources

Variations for Adult-Onset Nemaline Myopathy

Sources

Expression for Adult-Onset Nemaline Myopathy

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

Sources

Pathways for Adult-Onset Nemaline Myopathy

Sources

GO Terms for Adult-Onset Nemaline Myopathy

Sources

Sources for Adult-Onset Nemaline Myopathy

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

¹² Disease Ontology

¹³ diseasecard

¹⁴ DiseaseEnhancer

¹⁵ DISEASES

¹⁶ DrugBank

¹⁷ EFO

¹⁸ ExPASy

¹⁹ FMA

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ Genetics Home Reference

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

²⁹ GTR

³⁰ HGMD

³¹ HMDB

³² HPO

³³ ICD10

³⁴ ICD10 via Orphanet

³⁵ ICD9CM

³⁶ IUPHAR

³⁷ KEGG

³⁸ LifeMap

³⁹ LncRNADisease

⁴⁰ LOVD

⁴¹ MalaCards

⁴² MedGen

⁴³ MedlinePlus

⁴⁴ MeSH

⁴⁵ MESH via Orphanet

⁴⁶ MGI

⁴⁷ miR2Disease

⁴⁸ NCBI Bookshelf

⁴⁹ NCI

⁵⁰ NCIt

⁵¹ NDF-RT

⁵² NIH Clinical Center

⁵³ NIH Rare Diseases

⁵⁴ NINDS

⁵⁵ Novoseek

⁵⁶ Novus Biologicals

⁵⁷ OMIM

⁵⁸ OMIM via Orphanet

⁵⁹ Orphanet

⁶⁰ PathCards

⁶¹ PharmGKB

⁶² PubMed

⁶³ PubMed Health

⁶⁴ QIAGEN

⁶⁵ R&D Systems

⁶⁶ Reactome

⁶⁷ Sino Biological

⁶⁸ SNOMED-CT

⁶⁹ SNOMED-CT via HPO

⁷⁰ TGDB

⁷¹ Tocris

⁷² UMLS

⁷³ UMLS via Orphanet

⁷⁴ UniProtKB/Swiss-Prot

⁷⁵ Wikipedia