WordNet

situated farthest from point of attachment or origin, as of a limb or bone
directed away from the midline or mesial plane of the body
any pathology of the muscles that is not attributable to nerve dysfunction

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出典(authority):フリー百科事典『ウィキペディア（Wikipedia）』「2015/10/29 19:14:22」(JST)

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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

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UpToDate Contents

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1. 眼咽頭型、遠位型，および先天性筋ジストロフィー oculopharyngeal distal and congenital muscular dystrophies
2. 筋力低下患者へのアプローチ approach to the patient with muscle weakness
3. 代謝性ミオパチーへのアプローチ approach to the metabolic myopathies
4. 炎症性ミオパチーの病因 pathogenesis of inflammatory myopathies
5. 先天性ミオパシー congenital myopathies

English Journal

Absence of beta-amyloid deposition in the central nervous system of a transgenic mouse model of distal myopathy with rimmed vacuoles.

Anada RP1, Wong KT, Malicdan MC, Goh KJ, Hayashi Y, Nishino I, Noguchi S.
Amyloid : the international journal of experimental and clinical investigation : the official journal of the International Society of Amyloidosis.Amyloid.2014 Mar 7. [Epub ahead of print]
PMID 24601867

Distal myopathies.

Udd B.Author information Neuromuscular Research Center, Tampere University and University Hospital, Tampere, Finland, bjarne.udd@pshp.fi.AbstractAdvanced molecular genetic possibilities have made it possible to clarify and delineate an ever growing number of distinct new disease entities in the group of distal myopathies. These diseases share the clinical features of preferential muscle weakness in the feet and/or hands, and as they are genetic disorders that lead to progressive loss of muscle tissue they can also be called distal muscular dystrophies. More than 20 entities are currently identified and many are still waiting for genetic characterisation. No final diagnosis can be made on other grounds than by the molecular genetic defect. Besides the usual investigations, including electromyography and muscle biopsy, muscle imaging is very important in defining the precise pattern of muscle involvement. Based on the combination of age at onset, mode of inheritance, pathology and muscle imaging, the list of possible underlying genes can be tracked down to minimal number allowing for specific genetic testing.
Current neurology and neuroscience reports.Curr Neurol Neurosci Rep.2014 Mar;14(3):434. doi: 10.1007/s11910-013-0434-4.
Advanced molecular genetic possibilities have made it possible to clarify and delineate an ever growing number of distinct new disease entities in the group of distal myopathies. These diseases share the clinical features of preferential muscle weakness in the feet and/or hands, and as they are gene
PMID 24477389

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

こむら返りと遠位筋優位の筋症状を呈した筋原線維性ミオパチーの1例

岡田洋一郎,綾木孝,松本理器 [他]
臨床神経学 52(10), 774-777, 2012-10-00
NAID 40019458185

Related Pictures

★リンクテーブル★

リンク元	「遠位型ミオパチー」「遠位型筋ジストロフィー」
関連記事	「distal」

「遠位型ミオパチー」

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	Dysferlinopathy;