WordNet
- any pathology of the muscles that is not attributable to nerve dysfunction
Wikipedia preview
出典(authority):フリー百科事典『ウィキペディア（Wikipedia）』「2015/09/27 02:28:01」(JST)
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| Distal muscular dystrophy |
| Classification and external resources |
| Specialty |
neurology |
| ICD-10 |
G71.0 |
| ICD-9-CM |
359.1 |
| OMIM |
254130 604454 606768 |
| DiseasesDB |
31977 33507 |
| MeSH |
D049310 |
| GeneReviews |
|
Distal muscular dystrophy (or distal myopathy) is a group of disorders characterized by onset in the hands or feet. Many types involve dysferlin, but it has been suggested that not all cases do.[1]
Types include:
| Name |
OMIM |
Locus |
| Miyoshi myopathy (in Japan)[2] |
254130 |
DYSF at 2p13.3-p13.1 |
| Distal myopathy with anterior tibial onset |
606768 |
DYSF at 2p13.3-p13.1 |
| Welander distal myopathy |
604454 |
TIA1[3] at 2p13[4] |
DYSF is also associated with Limb-Girdle muscular dystrophy type 2B.[5]
Distal muscular dystrophy is a type of muscular dystrophy that affects the muscles of the extremities, the hands, feet, lower arms, or lower legs. The cause of this dystrophy is very hard to determine because it can be a mutation in any of at least eight genes and not all are known yet. These mutations can be inherited from one parent, autosomal dominant, or from both parents, autosomal recessive. Along with being able to inherit the mutated gene, distal muscular dystrophy has slow progress therefore the patient may not know that they have it until they are in their late 40’s or 50’s. There are eight known types of distal muscular dystrophy. They are Welander’s distal myopathy, Finnish (tibial) distal myopathy, Miyoshi distal myopathy, Nonaka distal myopathy, Gowers-Laing distal myopathy, Hereditary inclusion-body myositis type 1, Distal myopathy with vocal cord and pharyngeal weakness, and ZASP-related myopathy. All of these affect different regions of the extremities and can show up as early as 5 years of age to as late as 50 years old. Doctors are still trying to determine what causes these mutations along with effective treatments.
References
- ^ Murakami N, Sakuta R, Takahashi E, et al. (December 2005). "Early onset distal muscular dystrophy with normal dysferlin expression". Brain Dev. 27 (8): 589–91. doi:10.1016/j.braindev.2005.02.002. PMID 16310593.
- ^ Soares CN, de Freitas MR, Nascimento OJ, da Silva LF, de Freitas AR, Werneck LC (December 2003). "Myopathy of distal lower limbs: the clinical variant of Miyoshi". Arq Neuropsiquiatr 61 (4): 946–9. doi:10.1590/S0004-282X2003000600011. PMID 14762596.
- ^ Hackman P, Sarparanta J, Lehtinen S, Vihola A, Evilä A, Jonson PH, Luque H, Kere J, Screen M, Chinnery PF, Åhlberg G, Edsröm L & Udd B (January 2013). "Welander Distal Myopathy Is Caused by a Mutation in the RNA-Binding Protein TIA1". Annals of Neurology 73 (4): 500–509. doi:10.1002/ana.2383. PMID 23401021.
- ^ von Tell D, Bruder CE, Anderson LV, Anvret M, Ahlberg G (August 2003). "Refined mapping of the Welander distal myopathy region on chromosome 2p13 positions the new candidate region telomeric of the DYSF locus". Neurogenetics 4 (4): 173–7. doi:10.1007/s10048-003-0154-z. PMID 12836053.
- ^ Illa I (March 2000). "Distal myopathies". J. Neurol. 247 (3): 169–74. doi:10.1007/s004150050557. PMID 10787109.
External links
- GeneReviews/NCBI/NIH/UW entry on Dysferlinopathy: Miyoshi Distal Myopathy (Miyoshi Myopathy), Limb-Girdle Muscular Dystrophy Type 2B (LGMD2B)
- Slides at neuro.wustl.edu
- Jain Foundation Inc: Research into Miyoshi/LGMD2B
- Muscular Dystrophy Association's website in Greece
- Muscular Dystrophy Association in the USA
|
Muscular dystrophy
|
|
| Types |
- Congenital
- dystrophin
- Distal
- Emery-Dreifuss
- Facioscapulohumeral
- Limb-girdle muscular dystrophy
- Myotonic
- Oculopharyngeal
|
|
| National/International Organizations |
- Muscular Dystrophy Association (USA)
- Muscular Dystrophy Canada
- Myotonic Dystrophy Foundation
|
|
| National/International Events |
- MDA Muscle Walk (USA)
- Labor Day Telethon (defunct) (USA/Canada)
- Décrypthon (France)
|
|
| Clinical trials |
|
|
|
Index of muscle
|
|
| Description |
- Anatomy
- head
- neck
- arms
- chest and back
- diaphragm
- abdomen
- genital area
- legs
- Muscle tissue
- Physiology
|
|
| Disease |
- Myopathy
- Soft tissue
- Connective tissue
- Congenital
- abdomen
- muscular dystrophy
- Neoplasms and cancer
- Injury
- Symptoms and signs
|
|
| Treatment |
- Procedures
- Drugs
- anti-inflammatory
- muscle relaxants
|
|
|
|
Diseases of myoneural junction and muscle / neuromuscular disease (G70–G73, 358–359)
|
|
Neuromuscular-
junction disease |
- autoimmune
- Myasthenia gravis
- Lambert–Eaton myasthenic syndrome
|
|
Myopathy/
congenital myopathy |
Muscular dystrophy
(DAPC) |
| AD |
- Limb-girdle muscular dystrophy 1
- Oculopharyngeal
- Facioscapulohumeral
- Myotonic
- Distal (most)
|
|
| AR |
- Limb-girdle muscular dystrophy 2
- Congenital
- Fukuyama
- Ullrich
- Walker–Warburg
|
|
| XR |
- dystrophin
- Emery–Dreifuss
|
|
|
| Other structural |
- collagen disease
- PTP disease
- adaptor protein disease
- BIN1-linked centronuclear myopathy
- cytoskeleton disease
- Nemaline myopathy
- Zaspopathy
|
|
| Channelopathy |
| Myotonia |
- Myotonia congenita
- Thomsen disease
- Neuromyotonia/Isaacs syndrome
- Paramyotonia congenita
|
|
| Periodic paralysis |
|
|
| Other |
|
|
|
| Mitochondrial myopathy |
|
|
| Other |
|
|
|
|
Index of muscle
|
|
| Description |
- Anatomy
- head
- neck
- arms
- chest and back
- diaphragm
- abdomen
- genital area
- legs
- Muscle tissue
- Physiology
|
|
| Disease |
- Myopathy
- Soft tissue
- Connective tissue
- Congenital
- abdomen
- muscular dystrophy
- Neoplasms and cancer
- Injury
- Symptoms and signs
|
|
| Treatment |
- Procedures
- Drugs
- anti-inflammatory
- muscle relaxants
|
|
|
|
Cell membrane protein disorders (other than Cell surface receptor, enzymes, and cytoskeleton)
|
|
| Arrestin |
|
|
| Myelin |
- Pelizaeus–Merzbacher disease
- Dejerine–Sottas disease
- Charcot–Marie–Tooth disease 1B, 2J
|
|
| Pulmonary surfactant |
- Surfactant metabolism dysfunction 1, 2
|
|
| Cell adhesion molecule |
|
IgSF CAM:
|
|
|
|
Cadherin:
|
- DSG1
- Striate palmoplantar keratoderma 1
|
|
- DSG2
- Arrhythmogenic right ventricular dysplasia 10
- DSG4
- DSC2
- Arrhythmogenic right ventricular dysplasia 11
|
|
|
|
Integrin:
|
- cell surface receptor deficiencies
|
|
|
| Tetraspanin |
- TSPAN7
- X-Linked mental retardation 58
- TSPAN12
- Familial exudative vitreoretinopathy 5
|
|
| Other |
- KIND1
- HFE
- HFE hereditary haemochromatosis
- DYSF
- Distal muscular dystrophy
- Limb-girdle muscular dystrophy 2B
|
|
|
See also other cell membrane proteins
|
Index of cells
|
|
| Description |
- Structure
- Organelles
- peroxisome
- cytoskeleton
- centrosome
- epithelia
- cilia
- mitochondria
- Membranes
- Membrane transport
- ion channels
- vesicular transport
- solute carrier
- ABC transporters
- ATPase
- oxidoreduction-driven
|
|
| Disease |
- Structural
- peroxisome
- cytoskeleton
- cilia
- mitochondria
- nucleus
- scleroprotein
- Membrane
- channelopathy
- solute carrier
- ATPase
- ABC transporters
- other
- extracellular ligands
- cell surface receptors
- intracellular signalling
- Vesicular transport
- Pore-forming toxins
|
|
|
UpToDate Contents
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English Journal
- Respiratory and cardiac function in japanese patients with dysferlinopathy.
- Nishikawa A1,2,3, Mori-Yoshimura M1, Segawa K4, Hayashi YK3,5, Takahashi T6, Saito Y7, Nonaka I8, Krahn M9,10, Levy N9,10, Shimizu J11, Mitsui J11, Kimura E12, Goto J11,13, Yonemoto N12, Aoki M14, Nishino I3,12, Oya Y1, Murata M1.
- Muscle & nerve.Muscle Nerve.2016 Mar;53(3):394-401. doi: 10.1002/mus.24741. Epub 2016 Jan 27.
- INTRODUCTION: We retrospectively reviewed respiratory and cardiac function in patients with dysferlinopathy, including 2 autopsy cases with respiratory dysfunction.METHODS: Subjects included 48 patients who underwent respiratory evaluation (n = 47), electrocardiography (n = 46), and echocardiography
- PMID 26088049
- Defective membrane fusion and repair in Anoctamin5 -deficient muscular dystrophy.
- Griffin DA1, Johnson RW1, Whitlock JM2, Pozsgai ER3, Heller KN1, Grose WE1, Arnold WD4, Sahenk Z5, Hartzell HC2, Rodino-Klapac LR6.
- Human molecular genetics.Hum Mol Genet.2016 Feb 23. pii: ddw063. [Epub ahead of print]
- Limb girdle muscular dystrophies are a genetically diverse group of diseases characterized by chronic muscle wasting and weakness. Recessive mutations in ANO5 (TMEM16E) have been directly linked to several clinical phenotypes including limb girdle muscular dystrophy type 2L and Miyoshi myopathy type
- PMID 26911675
Japanese Journal
- Efficient and Reproducible Myogenic Differentiation from Human iPS Cells: Prospects for Modeling Miyoshi Myopathy In Vitro
- Tanaka Akihito,Woltjen Knut,Miyake Katsuya,Hotta Akitsu,Ikeya Makoto,Yamamoto Takuya,Nishino Tokiko,Shoji Emi,Sehara-Fujisawa Atsuko,Manabe Yasuko,Fujii Nobuharu,Hanaoka Kazunori,Era Takumi,Yamashita Satoshi,Isobe Ken-ichi,Kimura En,Sakurai Hidetoshi
- PLoS ONE 8(4), 2013-04-23
- … Miyoshi Myopathy (MM) is a congenital distal myopathy caused by defective muscle membrane repair due to mutations in DYSFERLIN. …
- NAID 120005244565
- 一過性の筋力低下から回復し，10年間無症状であるdysferlin異常症の1例
- 小林 芳人,高橋 俊明,隅 寿恵 [他],藤村 晴俊,青木 正志,高橋 正紀,佐古田 三郎
- 臨床神経学 52(7), 495-498, 2012
- 生来健康であったが18歳時に重労働への就労1.5カ月で歩行困難が出現し，横紋筋融解症をうたがわれたが安静などにより症状は改善をみとめ，以後10年間は無症状であるdysferlin異常症の男性患者を報告した．血清CK値が2,000U/L前後の高値を持続したので18歳時に筋生検をおこなったが，当時は診断確定ができなかった．後に保存検体の免疫染色でdysferlin欠損をみとめ，遺伝子検索ではdysfe …
- NAID 130004505280
★リンクテーブル★
[★]
- 英
- distal myopathy、Miyoshi myopathy
- 関
- 遠位型筋ジストロフィー、脛骨筋ジストロフィー、三好ミオパチー、三好遠位型筋ジストロフィー
[★]
- 英
- Miyoshi myopathy
- 関
- 遠位型ミオパチー、三好遠位型筋ジストロフィー
[★]
- 英
- Miyoshi myopathy
- 関
- 遠位型ミオパチー、三好ミオパチー