Miyoshi Myopathy malady

NIH Rare Diseases: Miyoshi myopathy is a type of muscular dystrophy characterized by muscle weakness and atrophy (wasting), mainly in the distal parts of the legs. The first symptoms typically begin in young adulthood (on average 20 years of age) and include weakness and atrophy of the calves (sometimes asymmetrically), leading to inability to jump, run or walk on tiptoes. Over a period of years, the weakness and atrophy typically spread to the thighs and gluteal muscles. The forearms may become mildly atrophic with decrease in grip strength. It is caused by mutations in the DYSF gene and is inherited in an autosomal recessive manner. Management may include physical therapy, use of mechanical aids, surgical intervention for orthopedic complications, respiratory aids, and social and emotional support.³⁰

MalaCards: Miyoshi Myopathy, also known as miyoshi distal myopathy, is related to limb-girdle muscular dystrophy and myopathy. An important gene associated with Miyoshi Myopathy is DYSF (dysferlin, limb girdle muscular dystrophy 2B (autosomal recessive)). The compound creatinine have been mentioned in the context of this disorder. Affiliated tissues include skeletal muscle, and related mouse phenotype muscle.

Wikipedia: Distal muscular dystrophy (or distal myopathy) is a group of disorders characterized by onset in the...⁴⁴ more...

OMIM: 254130

miyoshi myopathy 7 30 16 33 32 43 miyoshi distal myopathy 30 16

muscular dystrophy, distal, late onset, autosomal recessive 30 mm 30

Diseases related to miyoshi myopathy by text searches and GeneDecks gene sharing:

(show top 50)    (show all 90)

id	Related Disease	Score	Top Affiliating Genes
1	limb-girdle muscular dystrophy	32.9	DYSF, CAPN3, SGCA
2	myopathy	31.9	MYOF, SGCA, DCTN1, DYSF, CAPN3, CHKB
3	dysferlinopathy	30.8	MYOF, DYSF, CAPN3
4	limb-girdle muscular dystrophy, type 2b	30.1	DYSF, CAPN3, MYOF
5	calpainopathy	30.0	DYSF, CAPN3, SGCA
6	muscular dystrophy	30.0	CHKB, DCTN1, DYSF, CAPN3, MYOF, SGCA
7	limb-girdle muscular dystrophy type 2h	13.0	CAPN3, DYSF
8	limb-girdle muscular dystrophy, type 2g	12.9	CAPN3, DYSF
9	limb-girdle muscular dystrophy, type 1a	12.9	DYSF, CAPN3
10	sarcoglycanopathies	12.8	SGCA, DYSF
11	becker muscular dystrophy	12.8	SGCA, DYSF
12	skeletal muscle regeneration	12.8	CAPN3, DYSF
13	protein s deficiency	12.8	DYSF, CAPN3
14	distal muscular dystrophy	12.5	DYSF, CHKB
15	limb-girdle muscular dystrophy type 2e	12.5	SGCA, DYSF, CAPN3
16	limb-girdle muscular dystrophy type 2f	12.4	DYSF, SGCA, CAPN3
17	myopathy congenital	12.4	CHKB, DYSF
18	spinal-bulbar muscular atrophy	12.4	CHKB, DCTN1
19	idiopathic myopathy	12.3	CHKB, DYSF
20	duchenne muscular dystrophy	12.3	CHKB, SGCA
21	ullrich congenital muscular dystrophy	12.2	SGCA, CHKB
22	polymyositis	12.2	CHKB, DYSF
23	limb-girdle muscular dystrophy type 2i	12.2	DYSF, CAPN3, CHKB
24	inclusion body myositis	12.1	SGCA, CHKB, DYSF
25	myositis	12.1	CAPN3, DYSF, CHKB
26	dmd-associated dilated cardiomyopathy	11.7	DYSF, SGCA, CHKB
27	neuromuscular disease	11.6	DYSF, DCTN1, CAPN3, CHKB
28	amyotrophic lateral sclerosis	11.6	CHKB, CAPN3, DCTN1
29	lateral sclerosis	11.4	DCTN1, CAPN3, CHKB
30	neuropathy	11.1	SGCA, CAPN3, DCTN1, DYSF, CHKB
31	myeloma	8.3
32	multiple myeloma	8.0
33	melanoma	7.4
34	carcinoma	7.0
35	myocardial infarction	7.0
36	acute myocardial infarction	6.3
37	eaf	6.3
38	malignant mesothelioma	6.3
39	adenocarcinoma	5.8
40	hepatitis	5.8
41	hypoxia	5.8
42	pancreatic cancer	5.8
43	pancreatitis	5.8
44	angiokeratoma of mibelli	4.9
45	hepatocellular carcinoma	4.9
46	myelodysplastic syndrome	4.9
47	anemia	4.9
48	hypertrophic cardiomyopathy	4.9
49	ovarian carcinoma	4.9
50	blindness	4.9

Clinical features from OMIM: 254130

Approved drugs:

Drug clinical trials:

MalaCards organs/tissues related to miyoshi myopathy:

²²

MGI Mouse Phenotypes related to miyoshi myopathy:

²⁵

id	Description	MGI Source Accession	Score	Top Affiliating Genes
1	muscle phenotype	MP:0005369	7.7	SGCA, MYOF, CHKB, CAPN3, DYSF

Articles related to miyoshi myopathy:

(show all 22)

id	Title	Authors	Year	Affiliating Genes
1	Dysferlin expression in limb-girdle muscular dystrophy and Miyoshi myopathy: analysis of 45 cases (17785089)	Ren S.C.... Li D.N.	2007	DYSF
2	A novel compound heterozygous dysferlin mutation in Miyoshi myopathy siblings responding to dantrolene. (17868276)	Hattori H.... Suzuki N.	2007	DYSF, CHKB
3	Patients with a non-dysferlin Miyoshi myopathy have a novel membrane repair defect. (17132147)	Jaiswal J.K.... Bashir R.	2007	MYOF
4	Clinical and genetic analysis of Korean patients with Miyoshi myopathy: identification of three novel mutations in the DYSF gene. (16891820)	Cho H.J.... Kim J.W.	2006	DYSF
5	Calf-head sign in Miyoshi myopathy. (17030657)	Pradhan S.	2006	DYSF
6	Dysferlin mutation in a Chinese pedigree with Miyoshi myopathy. (16023782)	Shunchang S.... Deburgrave N.	2006	DYSF
7	Dysferlin mutations in LGMD2B, Miyoshi myopathy, and atypical dysferlinopathies. (16010686)	Nguyen K.... Levy N.	2005	DYSF
8	Novel dysferlin mutations and characteristic muscle atrophy in late-onset Miyoshi myopathy. (15116377)	Suzuki N.... Itoyama Y.	2004	DYSF
9	Dysferlin deficiency: the cause of limb-girdle muscular dystrophy 2B and Miyoshi myopathy in a Chinese pedigree (15079794)	Sun S.... Song Y.	2004	DYSF
10	Identification of a dysferlin gene mutation in a Korean case with Miyoshi myopathy. (15515206)	Oh S.-H.... Choi Y.-C.	2004	DYSF
11	Dysferlin mutation analysis in a group of Italian patients with limb- girdle muscular dystrophy and Miyoshi myopathy. (15469449)	Kawabe K.... Hayashi Y.K.	2004	DYSF
12	Dysferlin mutations in Japanese Miyoshi myopathy: relationship to phenotype. (12796534)	Takahashi T.... Itoyama Y.	2003	DYSF
13	Miyoshi myopathy patients with novel 5' splicing donor site mutations showed different dysferlin immunostaining at the sarcolemma. (12410383)	Saito A.... Osame M.	2002	DYSF
14	A novel, blood-based diagnostic assay for limb girdle muscular dystrophy 2B and Miyoshi myopathy. (11782994)	Ho M.... Brown Jr R.H.	2002	DYSF
15	Genomic organization of the dysferlin gene and novel mutations in Miyoshi myopathy. (11468312)	Aoki M.... Brown R.H. Jr.	2001	DYSF
16	Phenotypic variation in a large Japanese family with Miyoshi myopathy with nonsense mutation in exon 19 of dysferlin gene. (11231027)	Nakagawa M.... Osame M.	2001	DYSF
17	Secondary reduction in calpain 3 expression in patients with limb girdle muscular dystrophy type 2B and Miyoshi myopathy (primary dysferlinopathies). (11053681)	Anderson L.V.... Bushby K.M.	2000	CAPN3, DYSF
18	Dysferlin is a surface membrane-associated protein that is absent in Miyoshi myopathy. (10496277)	Matsuda C.... Brown R.H. Jr.	1999	DYSF
19	Identical mutation in patients with limb girdle muscular dystrophy type 2B or Miyoshi myopathy suggests a role for modifier gene(s). (10196377)	Weiler T.... Wrogemann K.	1999	DYSF
20	Dysferlin, a novel skeletal muscle gene, is mutated in Miyoshi myopathy and limb girdle muscular dystrophy. (9731526)	Liu J.... Brown R.H. Jr.	1998	DYSF
21	Generation of a 3-Mb PAC contig spanning the Miyoshi myopathy/limb-girdle muscular dystrophy (MM/LGMD2B) locus on chromosome 2p13. (9570945)	Liu J.... Brown R.H.	1998	DYSF
22	Miyoshi myopathy in Saudi Arabia: clinical, electrophysiological, histopathological and radiological features. (9673986)	Cupler E.J.... Ahmad J.	1998	SGCA

Genes related to miyoshi myopathy according to GeneCards:

id	Symbol	Description	Score	GeneCards Section Context
1	DYSF	dysferlin, limb girdle muscular dystrophy 2B (autosomal recessive)	11.1	Orthologs, Summaries, Publications
2	MYOF	myoferlin	11.0	Orthologs, Publications
3	CAPN3	calpain 3, (p94)	11.0	Publications
4	DCTN1	dynactin 1	11.0
5	CHKB	choline kinase beta	11.0	Publications
6	SGCA	sarcoglycan, alpha (50kDa dystrophin-associated glycoprotein)	11.0	Publications

Compounds related to miyoshi myopathy according to GeneDecks:

id	Compound	Score	Top Affiliating Genes
1	creatinine32	8.2	SGCA, CHKB, CAPN3, DYSF

Cellular components related to miyoshi myopathy according to GeneDecks:

id	Name	GO ID	Score	Top Affiliating Genes
1	cytoplasmic vesicle membrane	GO:030659	9.6	MYOF, DYSF
2	T-tubule	GO:030315	9.2	CAPN3, DYSF

Biological processes related to miyoshi myopathy according to GeneDecks:

id	Name	GO ID	Score	Top Affiliating Genes
1	plasma membrane repair	GO:001778	9.5	MYOF, DYSF
2	muscle contraction	GO:006936	9.5	SGCA, MYOF
3	muscle organ development	GO:007517	9.1	SGCA, CAPN3