Fukuyama Type Congenital Muscular Dystrophy in a Turkish Child

ABSTRACT:Congenital muscular dystrophy (CMD) is a heterogeneous group of disorders which is associated with more or less degrees of cerebral involvement. There are four separate entities within CMD nosology. Among these Fukuyama's CMD (FCMD) is highly prevalent in Japan, whereas the classic form with normal or subnormal intelligence, also known as the occidental type, covers the vast majority of cases in the West. We report a case of FCMD seen in a Turkish child.

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Congenital muscular dystrophy in two siblings with cataracts and slight cerebral involvement

Pediatric Neurology ◽

10.1016/0887-8994(94)90362-x ◽

1994 ◽

Vol 11 (2) ◽

pp. 141

Author(s):

Umbertina C. Reed ◽

Suely K.N. Marie ◽

Ana M.C.B. Tsanaclis ◽

Mary S. Carvalho ◽

Jayme Roizenblatt ◽

...

Keyword(s):

Muscular Dystrophy ◽

Congenital Muscular Dystrophy ◽

Cerebral Involvement

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Congenital Muscular Dystrophy with Cerebral Involvement - Report of a Case of "Occidental Type Cerebromuscular Dystrophy"?

Neuropediatrics ◽

10.1055/s-2008-1071459 ◽

1990 ◽

Vol 21 (01) ◽

pp. 53-54 ◽

Cited By ~ 13

Author(s):

H. Topaloglu ◽

K. Yalaz ◽

G. Kale ◽

M. Ergin

Keyword(s):

Muscular Dystrophy ◽

Congenital Muscular Dystrophy ◽

Cerebral Involvement

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CONGENITAL MUSCULAR DYSTROPHY. CARE OF CHILDREN AND FAMILIES

Scandinavian Journal of Rehabilitation Medicine ◽

10.1080/003655098443904 ◽

1998 ◽

Vol 30 (0) ◽

pp. 53-57

Author(s):

Karin Edebol Eeg-Olofsson

Keyword(s):

Muscular Dystrophy ◽

Congenital Muscular Dystrophy ◽

Children And Families

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Congenital muscular dystrophy: Phospho-glycan connection

Functional Glycomics ◽

10.1038/fg.2010.3 ◽

2010 ◽

Author(s):

Emma Leah

Keyword(s):

Muscular Dystrophy ◽

Congenital Muscular Dystrophy

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P.347Urinary titin fragment in Fukuyama congenital muscular dystrophy

Neuromuscular Disorders ◽

10.1016/j.nmd.2019.06.461 ◽

2019 ◽

Vol 29 ◽

pp. S168-S169

Author(s):

T. Sato ◽

N. Taniguchi ◽

K. Ishiguro ◽

M. Shichiji ◽

T. Murakami ◽

...

Keyword(s):

Muscular Dystrophy ◽

Congenital Muscular Dystrophy

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Skeletal and Cardiac Muscle Disorders Caused by Mutations in Genes Encoding Intermediate Filament Proteins

International Journal of Molecular Sciences ◽

10.3390/ijms22084256 ◽

2021 ◽

Vol 22 (8) ◽

pp. 4256

Author(s):

Lorenzo Maggi ◽

Manolis Mavroidis ◽

Stelios Psarras ◽

Yassemi Capetanaki ◽

Giovanna Lattanzi

Keyword(s):

Muscular Dystrophy ◽

Cardiac Muscle ◽

Intermediate Filament ◽

Striated Muscle ◽

Congenital Muscular Dystrophy ◽

Left Ventricular ◽

Intermediate Filament Proteins ◽

Muscle Disorders ◽

Genes Encoding ◽

Molecular Aspects

Intermediate filaments are major components of the cytoskeleton. Desmin and synemin, cytoplasmic intermediate filament proteins and A-type lamins, nuclear intermediate filament proteins, play key roles in skeletal and cardiac muscle. Desmin, encoded by the DES gene (OMIM *125660) and A-type lamins by the LMNA gene (OMIM *150330), have been involved in striated muscle disorders. Diseases include desmin-related myopathy and cardiomyopathy (desminopathy), which can be manifested with dilated, restrictive, hypertrophic, arrhythmogenic, or even left ventricular non-compaction cardiomyopathy, Emery–Dreifuss Muscular Dystrophy (EDMD2 and EDMD3, due to LMNA mutations), LMNA-related congenital Muscular Dystrophy (L-CMD) and LMNA-linked dilated cardiomyopathy with conduction system defects (CMD1A). Recently, mutations in synemin (SYNM gene, OMIM *606087) have been linked to cardiomyopathy. This review will summarize clinical and molecular aspects of desmin-, lamin- and synemin-related striated muscle disorders with focus on LMNA and DES-associated clinical entities and will suggest pathogenetic hypotheses based on the interplay of desmin and lamin A/C. In healthy muscle, such interplay is responsible for the involvement of this network in mechanosignaling, nuclear positioning and mitochondrial homeostasis, while in disease it is disturbed, leading to myocyte death and activation of inflammation and the associated secretome alterations.

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