Learn About Fukuyama Type Muscular Dystrophy

What is the definition of Fukuyama Type Muscular Dystrophy?
Fukuyama type muscular dystrophy, also known as congenital muscular dystrophy, is a rare type of genetic disease mainly found in Japan that causes progressive muscle weakness, loss of muscle mass, and deformities of the joints (contractures).
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What are the symptoms of Fukuyama Type Muscular Dystrophy?
Symptoms of Fukuyama type muscular dystrophy are present at birth, with a newborn presenting as being “floppy,” with a weak cry, droopy eyelids, impaired vision, an open mouth, weak muscles, loss of muscle tone, poor tendon reflexes, a sunken chest, and contractures of the elbows and knees. Additional symptoms of Fukuyama type muscular dystrophy include difficulty feeding and swallowing, aspiration pneumonia, seizures, intellectual disability, and speech problems. Children with Fukuyama muscular dystrophy are never able to stand or walk. Most children with Fukuyama muscular dystrophy do not survive beyond adolescence.
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What are the current treatments for Fukuyama Type Muscular Dystrophy?
There is no cure for Fukuyama congenital muscular dystrophy. Treatment is focused on symptoms and supportive care, such as anti-seizure medications, including phenytoin, valproic acid, phenobarbital, clonazepam, ethosuximide, and primidone, corticosteroids, and physical therapy. Genetic counseling is recommended for family members.
Who are the top Fukuyama Type Muscular Dystrophy Local Doctors?
TT
Tatsushi Toda
Elite
Highly rated in
38
conditions

University Of Tokyo

Hongo, JP 11386

Tatsushi Toda is in Hongo, Japan. Toda is rated as an Elite expert by MediFind in the treatment of Fukuyama Type Muscular Dystrophy. They are also highly rated in 38 other conditions, according to our data. Their top areas of expertise are Fukuyama Type Muscular Dystrophy, Walker-Warburg Syndrome, Neuronal Intranuclear Inclusion Disease, and Lissencephaly.

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KI
Keiko Ishigaki
Elite
Highly rated in
10
conditions

Heart Institute Of Japan

Department Of Pediatrics, Tokyo Women's Medical University, School Of Medicine 
Tokyo, JP 

Keiko Ishigaki is in Tokyo, Japan. Ishigaki is rated as an Elite expert by MediFind in the treatment of Fukuyama Type Muscular Dystrophy. She is also highly rated in 10 other conditions, according to our data. Her top areas of expertise are Walker-Warburg Syndrome, Hydrocephalus Autosomal Recessive, X-Linked Retinal Dysplasia, and Fukuyama Type Muscular Dystrophy.

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MI
Mariko Ikeda-Taniguchi
Elite
Highly rated in
10
conditions

Fujita Health University School Of Medicine

Fujita Health University 
Toyoake, JP 47011

Mariko Ikeda-Taniguchi is in Toyoake, Japan. Ikeda-Taniguchi is rated as an Elite expert by MediFind in the treatment of Fukuyama Type Muscular Dystrophy. She is also highly rated in 10 other conditions, according to our data. Her top areas of expertise are Walker-Warburg Syndrome, Fukuyama Type Muscular Dystrophy, Lissencephaly, and X-Linked Retinal Dysplasia.

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What are the latest Fukuyama Type Muscular Dystrophy Clinical Trials?
Congenital Muscle Disease Patient and Proxy Reported Outcome Study
Status: Recruiting
Start Date: September 2009
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Summary: The Congenital Muscle Disease Patient and Proxy Reported Outcome Study (CMDPROS) is a longitudinal 10 year study to identify and trend care parameters, adverse events in the congenital muscle diseases using the Congenital Muscle Disease International Registry (CMDIR) to acquire necessary data for adverse event calculations (intake survey and medical records curation). To support this study and bec...
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What are the Latest Advances for Fukuyama Type Muscular Dystrophy?
Efficacy of steroid therapy for Fukuyama congenital muscular dystrophy.
Condition: Fukuyama Congenital Muscular Dystrophy
Journal: Scientific reports
Treatment Used: Steroid Therapy
Number of Patients: 0
Published: December 21, 2021
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Summary: Efficacy of steroid therapy for Fukuyama congenital muscular dystrophy.
Fukutin Protein Participates in Cell Proliferation by Enhancing Cyclin D1 Expression through Binding to the Transcription Factor Activator Protein-1: An In Vitro Study.
Journal: International journal of molecular sciences
Published: November 27, 2021
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Summary: Fukutin Protein Participates in Cell Proliferation by Enhancing Cyclin D1 Expression through Binding to the Transcription Factor Activator Protein-1: An In Vitro Study.
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FKRP mutations cause congenital muscular dystrophy 1C and limb-girdle muscular dystrophy 2I in Asian patients.
Journal: Journal of clinical neuroscience : official journal of the Neurosurgical Society of Australasia
Published: September 12, 2021
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Summary: FKRP mutations cause congenital muscular dystrophy 1C and limb-girdle muscular dystrophy 2I in Asian patients.
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