FCMD

同

Fukuyama type congenital muscular dystrophy

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出典(authority):フリー百科事典『ウィキペディア（Wikipedia）』「2016/07/27 21:10:46」(JST)

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Fukuyama congenital muscular dystrophy
Fukuyama congenital muscular dystrophy has an autosomal recessive pattern of inheritance
Classification and external resources
ICD-10	G71.2
OMIM	253800

Fukuyama congenital muscular dystrophy (FCMD) is a rare, autosomal recessive form of muscular dystrophy (weakness and breakdown of muscular tissue) mainly described in Japan but also identified in Turkish and Ashkenazi Jewish patients, fifteen cases were first described on 1960 by Fukuyama.

FCMD mainly affects the brain, eyes, and muscles, in particular, the disorder affects development of the skeletal muscles leading to weakness and deformed appearances, and brain development is blunted affecting cognitive functioning as well as social skills. In 1995, the disorder was linked to mutations in a gene coding for the protein fukutin (the FCMD gene).Fukuyama congenital muscular dystrophy is the second most prevalent form of muscular dystrophy in Japan. One out of every 90 people in Japan is a heterozygous carrier.

Symptoms and signs

In terms of the signs/symptoms of Fukuyama congenital muscular dystrophy it is characterized by a decrease in skeletal muscle tone as well as an impairment in brain and eye development.Initial symptoms of FCMD present in early infancy as decreased ability to feed. Marked differences in facial appearance occur due to decreased muscle tone. Further characteristics include:

• Seizures
• Delay in developmental
• Cardiac issues
• Swallowing difficulty
• Neurological problems

Fukuyama congenital muscular dystrophy also affects the nervous system and various associated parts. FCMD affects normal development of the brain producing a broadly smooth, bumpy shaped cortex named cobblestone lissencephaly as well as various other malformations, notably micropolygyria. Children also experience delayed myelination in the brain.

Cause

CHR 9

The cause of Fukuyama congenital muscular dystrophy is rooted in the FKTN gene, located at human chromosome 9q31, codes for the protein fukutin. Mutations in this gene, and therefore the fukutin protein, are the cause of FCMD. The disease is inherited in an autosomal recessive manner.

This means the defective gene responsible for the disorder is located on an autosome (chromosome 9 is an autosome), and two copies of the defective gene (one inherited from each parent) are required in order to be born with the disorder. The parents of an individual with an autosomal recessive disorder both carry one copy of the defective gene but usually do not experience any signs or symptoms of the disorder.

Pathophysiology

Protein DAG1

The mechanism of this sub-type of muscular dystrophy consists of a mutation in the FKTN gene which results in a malformed fukutin protein. It is thought that fukutin modifies the alpha-dystroglycan protein, which is important in anchoring cells to certain molecules, specifically including some proteins. Alpha-dystroglycan in skeletal muscles helps to prevent the breakdown of muscle fibers through stabilization and protection. Alpha-dystroglycan also helps brain development by assisting in the migration of neurons.Most frequently, FKTN is mutated in such a way that creates a shortage of fukutin in the cell, which in turn creates problems during formation of alpha-dystroglycan leading to less stabilization of muscle cells. Use of the destabilized muscle fibers over time causes them to break down and a gradual decline in muscle tone and atrophy of muscle fibers occurs. The decline in cerebral fukutin causes neuronal cells to continue moving beyond their intended destination.Additionally, it should be noted that oxidative stress has some effect on astrocytes (as well as, neurons) when fukutin is subdued

Diagnosis

In terms of diagnosis of Fukuyama congenital muscular dystrophy, serum creatine kinase concentration and muscle biopsies can be obtained to help determine if the individual has FMCD. FKTN molecular genetic testing is used to determine a mutation in the FKTN gene after a serum creatine kinase concentration, muscle biopsies, and/or MRI imaging have presented abnormalities indicative of FCMD, the presence of the symptoms indicates Fukuyama congenital muscular dystrophy. The available genetic test include:

• Linkage analysis
• Deletion analysis
• Sequence analysis - exons
• Sequence analysis - entire coding region

Treatment

Currently this sub-type of muscular dystrophy has no cure and no definitive treatment exists. Treatment offers preventative tactics to delay muscle breakdown and increase life expectancy. Stretching and physical therapy can increase mobility. Treatment also includes correcting skeletal abnormalities through orthopedic surgery and other orthopedic techniques. Antiepileptic medication is administered to help prevent seizures. ACE inhibitors and beta blockers help treat heart conditions, and respiratory assistance is more than likely needed at some point for the affected individual

Prognosis

Fukuyama congenital muscular dystrophy has a poor prognosis. Most children with FCMD reach a maximum mobility at sitting upright and sliding. Due to the compounded effects of continually worsening heart problems, impaired mental development, problems swallowing and additional complications, children with FCMD rarely live through adolescence, the disorder proves fatal by age 20.

See also

• Congenital muscular dystrophy
• Muscular dystrophy

References

Further reading

• Aida, N.; Tamagawa, K.; Takada, K.; Yagishita, A.; Kobayashi, N.; Chikumaru, K.; Iwamoto, H. (1996-04-01). "Brain MR in Fukuyama congenital muscular dystrophy.". American Journal of Neuroradiology 17 (4): 605–613. ISSN 0195-6108. PMID 8730178. 
• Saito, Fumiaki; Matsumura, Kiichiro (2011-01-01). "Fukuyama-type congenital muscular dystrophy and defective glycosylation of α-dystroglycan". Skeletal Muscle 1: 22. doi:10.1186/2044-5040-1-22. ISSN 2044-5040. PMC 3156645. 

External links

• Fukuyama type muscular dystrophy at NIH's Office of Rare Diseases

English Journal

• Abnormal vascular development in zebrafish models for fukutin and FKRP deficiency.

• Wood AJ, Müller JS, Jepson CD, Laval SH, Lochmüller H, Bushby K, Barresi R, Straub V.SourceThe authors wish it to be known that, in their opinion, the first two authors should be regarded as joint First Authors.
• Human molecular genetics.Hum Mol Genet.2011 Dec 15;20(24):4879-90. Epub 2011 Sep 15.
• Fukutin and fukutin-related protein (FKRP) are involved in the glycosylation of α-dystroglycan, a key receptor for basement membrane proteins. Aberrant α-dystroglycan glycosylation leads to a broad spectrum of disorders, ranging from limb girdle muscular dystrophy to Walker-Warburg syndrome. This
• PMID 21926082

• [Recent Advances in α-dystroglycanopathy].

• Kuga A, Kanagawa M, Toda T.SourceDivision of Neurology/Molecular Brain Science, Kobe University Graduate School of Medicine.
• Brain and nerve = Shinkei kenkyū no shinpo.Brain Nerve.2011 Nov;63(11):1189-95.
• Abstract Fukuyama-type congenital muscular dystrophy (FCMD), muscle-eye-brain disease (MEB), and Walker-Warburg syndrome (WWS) are autosomal recessive disorders characterized by congenital muscular dystrophy with structural brain and eye abnormalities. Aberrant glycosylation of α-dystroglycan (α-D
• PMID 22068471

Japanese Journal

• TPPV管理の神経筋疾患患者における肺コンプライアンス測定の検者内・検者間の相対信頼性と絶対信頼性の検討

• 理学療法学Supplement 2015(0), 0957, 2016
• NAID 130005417962

• 福山型先天性筋ジストロフィー患者におけるGMFMによる運動能力とROMの関係

• 理学療法学Supplement 2015(0), 0872, 2016
• NAID 130005417918

• 福山型先天性筋ジストロフィーにおけるGross Motor Function Measure の信頼性と妥当性

• 理学療法学 43(6), 439-444, 2016
• NAID 130005251437

Related Links

• 福山型筋ジストロフィー - 独立行政法人国立精神・神経医療 ...

先天性福山型筋ジストロフィー ・疾患の概要 先天性福山型筋ジストロフィー(FCMD)は、精神遅滞・筋力低下・脳形成不全を主徴をする常染色体劣性遺伝病．先天性筋ジストロフィー症の中で日本では一番頻度が高く、小児期進行性 ...

• Friendship Circle

www.FCMD.org Log Your Hours Bnei Mitzvah YAD Photo Gallery Grandparent Form Volunteer Awards Ceremony Kids Zone Parenting Holidays Jewish Practice User Name Password Account help Registration Forms >>

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★リンクテーブル★

リンク元	「筋ジストロフィー」「福山型先天性筋ジストロフィー」

「筋ジストロフィー」

　　[★]

英

muscular dystrophy MD

同

筋異栄養症

関

筋ジストロフィー症、筋ジストロフィ、筋ジス、進行性筋ジストロフィー

			遺伝
デュシェンヌ型筋ジストロフィー	Duchenne muscular dystrophy	DMD	XR
ベッカー型筋ジストロフィー	Becker's muscular dystrophy	BMD	XR
顔面肩甲上腕型筋ジストロフィー	facioscapulohumeral muscular dystrophy	FSHD	AD
肢帯型筋ジストロフィー	limb-girdle muscular dystrophy	LGMD	AR
筋強直性ジストロフィー	myotonic muscular dystrophy	MD	AD, triplet repeat disease
先天性筋ジストロフィー	congenital muscular dystrophy	CMD
福山型先天性筋ジストロフィー	Fukuyama congenital muscular dystrophy	FCMD	AR

「福山型先天性筋ジストロフィー」

　　[★]

英

Fukuyama congenital muscular dystrophy FCMD, Fukuyama type congenital muscular dystrophy

同

福山型筋ジストロフィー

関

福山症候群、先天性筋ジストロフィー

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福山型先天性筋ジストロフィー : 約 70,700 件
福山型筋ジストロフィー : 約 2,340 件
先天性福山型筋ジストロフィー : 56 件

• fukutin遺伝子異常による中枢神経症状を伴う筋変性疾患

参考

• wikipedia en

Fukuyama congenital muscular dystrophy