Fukuyama Type Muscular Dystrophy

Common Name(s)

Fukuyama Type Muscular Dystrophy, Fukuyama congenital muscular dystrophy

MDDGA4 is a severe autosomal recessive muscular dystrophy-dystroglycanopathy with characteristic brain and eye malformations, seizures, and mental retardation. Cardiac involvement in FCMD/MEB occurs in the second decade of life in those who survive. FKTN-related Walker-Warburg syndrome is a more severe manifestation of the disorder, with death usually in the first year of life. These entities are part of a group of similar disorders resulting from defective glycosylation of alpha-dystroglycan (DAG1; {128239}), collectively known as 'dystroglycanopathies' ({8:Godfrey et al., 2007}; {19:Muntoni and Voit, 2004}; {18:Muntoni et al., 2008}). For a general phenotypic description and a discussion of genetic heterogeneity of muscular dystrophy-dystroglycanopathy type A, see MDDGA1 ({236670}).
 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Fukuyama Type Muscular Dystrophy" for support, advocacy or research.

There are currently no organizations listed in Disease InfoSearch that support this condition. Create a listing.

 

 

General Support Organizations

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Fukuyama Type Muscular Dystrophy" returned 5 free, full-text research articles on human participants. First 3 results:

A role of fukutin, a gene responsible for Fukuyama type congenital muscular dystrophy, in cancer cells: a possible role to suppress cell proliferation.
 

Author(s): Tomoko Yamamoto, Yoichiro Kato, Noriyuki Shibata, Tatsuo Sawada, Makiko Osawa, Makio Kobayashi

Journal: Int J Exp Pathol. 2008 Oct;89(5):332-41.

 

Fukutin, a gene responsible for Fukuyama type congenital muscular dystrophy (FCMD), is presumably related to the glycosylation of alpha-dystroglycan (alpha-DG), involved in basement membrane formation. Hypoglycosylation of alpha-DG plays a key role for the pathogenesis of FCMD. On ...

Last Updated: 23 Sep 2008

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[Fukuyama type congenital muscular dystrophy].
 

Author(s): D J Calzada-Sierra

Journal: Rev Neurol. ;34(1):98.

 

Last Updated: 3 May 2002

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Structural organization, complete genomic sequences and mutational analyses of the Fukuyama-type congenital muscular dystrophy gene, fukutin.
 

Author(s): K Kobayashi, J Sasaki, E Kondo-Iida, Y Fukuda, M Kinoshita, Y Sunada, Y Nakamura, T Toda

Journal: FEBS Lett.. 2001 Feb;489(2-3):192-6.

 

Fukuyama-type congenital muscular dystrophy (FCMD) is an autosomal recessive severe muscular dystrophy in combination with cerebral cortical dysplasia. Previously, we identified the gene responsible for FCMD, termed fukutin, through positional cloning. In this study, we have sequenced ...

Last Updated: 22 Feb 2001

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Fukuyama Type Muscular Dystrophy" returned 1 free, full-text review articles on human participants. First 3 results:

Characteristics of neurons and glia in the brain of Fukuyama type congenital muscular dystrophy.
 

Author(s): T Yamamoto, Y Kato, M Kawaguchi-Niida, N Shibata, M Osawa, K Saito, S Kröger, M Kobayashi

Journal: Acta Myol. 2008 Jul;27():9-13.

 

Fukuyama type congenital muscular dystrophy accompanies central nervous system and ocular lesions. Morphological findings suggest that major central nervous system lesions, such as cortical dysplasia, are caused by the abnormal glia limitans due to an impairment of astrocytes. Increase ...

Last Updated: 25 Dec 2008

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Clinical Trial Information This information is provided by ClinicalTrials.gov

Congenital Muscle Disease Study of Patient and Family Reported Medical Information
 

Status: Recruiting

Condition Summary: Congenital Muscular Dystrophy (Including Unspecified/Undiagnosed); Dystroglycanopathy; Congenital Fiber Type Disproportion; Rigid Spine Muscular Dystrophy; Congenital Myopathy (Including Unspecified/Undiagnosed); Collagen VI CMD (Ullrich CMD, Intermediate, Bethlem Myopathy); Laminin Alpha 2 Related Congenital Muscular Dystrophy; LAMA2-CMD/Merosin Deficient/MDC1A; Walker-Warburg Syndrome; Muscle-Eye-Brain Disease; Fukuyama/Fukutin Related Muscular Dystrophy; Integrin Alpha 7 Deficiency; Integrin Alpha 9 Deficiency; LMNA-CMD/Lamin A/C/Laminopathy; SEPN1-Related Myopathy; Bethlem Myopathy; Actin Aggregation Myopathy; Cap Disease; Central Core Disease; Centronuclear Myopathy; Core Rod Myopathy; Hyaline Body Myopathy; Multiminicore Myopathy; Myotubular Myopathy; Nemaline Myopathy; Tubular Aggregate Myopathy; Zebra Body Myopathy; Reducing Body Myopathy; Spheroid Body Myopathy; LGMD1B (LMNA); LGMD1E (DES); LGMD2G (TCAP); LGMD2H (TRIM32); LGMD2I (FKRP); LGMD2J (TTN); LGMD2K (POMT1); LGMD2M (FKTN); LGMD2N (POMT2); LGMD2O (POMGnT1); LGMD2P (DAG1); LGMD2Q (PLEC1); LGMD2R (DES); LGMD2S (TRAPPC11); LGMD2T (GMPPB); LGMD2U (ISPD); LGMD2V (GAA); Ullrich Congenital Muscular Dystrophy; Titinopathy; Choline Kinase B Receptor; Emery-Dreifuss Muscular Dystrophy; RYR1 Related Myopathy; SYNE1/Nesprin Related Muscular Dystrophy; Telethonin Related Muscular Dystrophy (TCAP/Titin-Cap); Congenital Myasthenic Syndrome; Escobar Syndrome; Myofibrillar Myopathy; Malignant Hyperthermia; Alpha-Dystroglycan Related Muscular Dystrophy (DAG1, DPM1, DPM2, DPM3, FKRP, FKTN); Alpha-Dystroglycan Related Muscular Dystrophy (GAA, ISPD, LARGE, POMT1, POMT2, POMGnT1); Alpha-Dystroglycan Related Muscular Dystrophy (Unspecified/Undiagnosed/Other)

 

Last Updated: 5 May 2017

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