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

MCID: ADL068 MIFTS: 23	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 ⁵² ⁵⁸

Adult Onset Nemaline Myopathy ⁷¹

Characteristics:

Orphanet epidemiological data:

⁵⁸

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: ³³

Diseases of the nervous system

Diseases of myoneural junction and muscle

Primary disorders of muscles

Congenital myopathies

Orphanet: ⁵⁸

Rare neurological diseases

External Ids:

ICD10 via Orphanet ³³ G71.2

UMLS via Orphanet ⁷² C0546123

Orphanet ⁵⁸ ORPHA171442

UMLS ⁷¹ C0546123

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Summaries for Adult-Onset Nemaline Myopathy

NIH Rare Diseases : ⁵² The following summary is from Orphanet , a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 171442 Definition A rapidly progressive type of nemaline myopathy (NM) characterized by a very late onset. Epidemiology The annual incidence of NM has been estimated at 1/50,000 live births. Adult-onset NM represents <5% of total cases. Clinical description Adult 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 counseling Adult 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

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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
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:

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Symptoms & Phenotypes for Adult-Onset Nemaline Myopathy

Human phenotypes related to Adult-Onset Nemaline Myopathy:

⁵⁸ ³¹ (show all 30)

#	Description	HPO Frequency	Orphanet Frequency	HPO Source Accession
1	emg: myopathic abnormalities ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0003458
2	nemaline bodies ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0003798
3	myalgia ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0003326
4	type 1 muscle fiber predominance ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0003803
5	increased muscle lipid content ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0009058
6	increased variability in muscle fiber diameter ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0003557
7	upper limb muscle weakness ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0003484
8	bradykinesia ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0002067
9	neck flexor weakness ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0003722
10	paraproteinemia ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0031047
11	flexion contracture ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0001371
12	respiratory insufficiency due to muscle weakness ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0002747
13	feeding difficulties ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0011968
14	high palate ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0000218
15	micrognathia ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0000347
16	dilated cardiomyopathy ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0001644
17	muscle stiffness ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0003552
18	bulbar signs ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0002483
19	narrow face ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0000275
20	long face ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0000276
21	hyporeflexia ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0001265
22	reduced vital capacity ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0002792
23	difficulty walking ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0002355
24	lower limb muscle weakness ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0007340
25	muscle fibrillation ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0010546
26	neuromuscular dysphagia ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0002068
27	mildly elevated creatine kinase ³¹	very rare (1%)		HP:0008180
28	myopathy ⁵⁸		Very frequent (99-80%)
29	mildly elevated creatine phosphokinase ⁵⁸		Very rare (<4-1%)
30	poor fine motor coordination ⁵⁸		Excluded (0%)

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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:

⁴⁰

Heart

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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. ⁶¹	Tsunoda K...Abe K	28131200	2017
2	Adult-onset Nemaline Myopathy Coexisting With Myasthenia Gravis: A Case Report. ⁶¹	Cao L...Li W	26825889	2016
3	Diagnosis of muscle diseases presenting with early respiratory failure. ⁶¹	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. ⁶¹	Taglia A...Politano L	23620652	2012
5	Adult-onset nemaline myopathy in a dog presenting with persistent atrial standstill and primary hypothyroidism. ⁶¹	Nakamura RK...Shelton GD	22647214	2012
6	Adult nemaline myopathy with trabecular muscle fibers. ⁶¹	Irodenko VS...Layzer RB	19229965	2009
7	[Adult-onset nemaline myopathy with distal muscle atrophy--case report]. ⁶¹	Niwa F...Nakagawa M	19526838	2009
8	Idiopathic adult-onset nemaline myopathy presenting with isolated respiratory failure. ⁶¹	Whitaker J...Plummeridge M	19208402	2009
9	[Nemaline myopathy detected with respiratory failure and right ventricular heart failure]. ⁶¹	Ishiguro T...Sugita Y	19260542	2009
10	Adult-onset nemaline myopathy presenting as respiratory failure. ⁶¹	Kelly E...McElvaney NG	18957152	2008
11	Editorial comment: HIV-associated adult-onset nemaline myopathy. ⁶¹	Mani D...Aboulafia DM	18330039	2008
12	[Adult onset nemaline myopathy revealed by respiratory insufficiency]. ⁶¹	Befort P...Pages M	17151520	2006
13	Adult-onset nemaline myopathy and monoclonal gammopathy. ⁶¹	Keller CE...Bhagat G	16401746	2006
14	Isolated dropped head due to adult-onset nemaline myopathy treated by posterior fusion. ⁶¹	Katirji B...Bohlman HH	16275851	2005
15	Nemaline myopathy: a clinical study of 143 cases. ⁶¹	Ryan MM...North KN	11558787	2001
16	[Adult onset nemaline myopathy and monoclonal gammopathy]. ⁶¹	Nakagawa M...Hirata K	11555970	2001
17	[Congenital nemaline myopathy with mitochondrial abnormalities. An adult case report]. ⁶¹	Oya Y...Kawai M	11002727	2000
18	Adult-onset nemaline myopathy and monoclonal gammopathy: a case report. ⁶¹	Deconinck N...Van den Bergh PY	10779860	2000
19	Adult-onset nemaline myopathy: Another cause of dropped head. ⁶¹	Lomen-Hoerth C...Layzer RB	10417802	1999
20	Distinct light microscopic changes in human immunodeficiency virus-associated nemaline myopathy. ⁶¹	Feinberg DM...Weidenheim KM	9484391	1998
21	Adult-onset nemaline myopathy: a case report and review of the literature. ⁶¹	Gyure KA...Estes ML	9372751	1997
22	[A patient of late-onset nemaline myopathy with mononuclear cell infiltration]. ⁶¹	Miura H...Nonaka I	7834955	1994
23	Adult onset nemaline myopathy: a distinct nosologic entity? ⁶¹	Palmucci L...Chiado-Piat L	8391957	1993
24	[A case of adult-onset nemaline myopathy (adult-onset rod disease) with distal muscular hypertrophy]. ⁶¹	Mitsui T...Goto I	1657478	1991
25	[Clinical and pathological studies on two patients with adult-onset nemaline myopathy]. ⁶¹	Maruyama T...Nonaka I	2173650	1990
26	[Adult onset nemaline myopathy--a case report]. ⁶¹	Wakayama Y...Shibuya S	2851401	1988
27	Adult onset nemaline myopathy. ⁶¹	Brownell AK...Lam AK	569791	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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