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 9 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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Unique tauopathy in Fukuyama-type congenital muscular dystrophy.
 

Author(s): Yuko Saito, Yasufumi Motoyoshi, Takeshi Kashima, Naotaka Izumiyama-Shimomura, Tatsushi Toda, Imaharu Nakano, Masato Hasegawa, Shigeo Murayama

Journal: J. Neuropathol. Exp. Neurol.. 2005 Dec;64(12):1118-26.

 

Fukuyama-type congenital muscular dystrophy (FCMD) is characterized by muscular dystrophy and cortical dysgenesis of the cerebrum and cerebellum. We investigated the extent and nature of tauopathy in the brains of 7 postfetal (14-34 years of age) and 2 fetal (18- and 20-week gestational ...

Last Updated: 1 Dec 2005

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Aberrant neuronal migration in the brainstem of fukuyama-type congenital muscular dystrophy.
 

Author(s): Yoshiaki Saito, Makio Kobayashi, Masayuki Itoh, Kayoko Saito, Masashi Mizuguchi, Hiroshi Sasaki, Kunimasa Arima, Tomoko Yamamoto, Sachio Takashima, Masayuki Sasaki, Kitami Hayashi, Makiko Osawa

Journal: J. Neuropathol. Exp. Neurol.. 2003 May;62(5):497-508.

 

We examined the brainstem of 10 patients with Fukuyama-type congenital muscular dystrophy (FCMD). In the midbrain we noted leptomeningeal glioneuronal heterotopia (LGH) (n = 9) and intramural "micropolygyria" (n = 1) in the tectum, as well as tyrosine hydroxylase-positive ectopic ...

Last Updated: 28 May 2003

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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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Symptoms, Diagnosis, and Treatment

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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: Muscular Dystrophy; Congenital Muscular Dystrophy; Fukutin-related Protein Gene; Limb Girdle; FKRP Gene; Childhood Onset LGMD; Adult Onset LGMD; POMT1; POMT2; POMGnT1; LARGE; Alpha Dystroglycan; Dystroglycanopathy; Centronuclear; Multiminicore; Multicore; Minicore; Congenital Fiber Type Disproportion; Myotubular; Nemaline; Congenital Myopathy; Neuromuscular; Rigid Spine; Phenotype-Genotype Correlation; Cough Assisted Device; Neuromuscular Disease; Respiratory Exacerbation; Invasive Ventilation; Chest Physiotherapy; Congenital Myopathies; Genetic Mutations; Hypertrophic Cardiomyopathy; Wheelchair Use; Cataract; Opthalmoplegia; Ullrich Congenital Muscular Dystrophy; Intermediate Collagen VI Myopathy; Laminin Alpha 2 Related Congenital Muscular Dystrophy; MDC1A; Merosin Deficient Congenital Muscular Dystrophy; Congenital Muscular Dystrophy Undiagnosed; Congenital Muscular Dystrophy Merosin Positive; Walker Warburg Syndrome; Muscle Eye Brain Disease; Fukuyama; Integrin Alpha 7 Deficiency; Integrin Alpha 9 Deficiency; Laminopathy; Lamin AC; SEPN 1 Related Myopathies; Bethlem Myopathy; Dystroglycanopathies; LGMD2K; LGMD2I; LGMD2L; LGMD2N; 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 Disease Myopathy; Congenital Myopathy Other; Reducing Body Myopathy; Sarcotubular Myopathy; Spheroid Body Myopathy

 

Last Updated: 27 Jul 2016

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