Fukuyama Type Muscular Dystrophy Overview

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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).
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?
Elite in Fukuyama Type Muscular Dystrophy
Dr. Katherine D. Mathews
Neurology | Pediatrics | Pediatric Neurology
Elite in Fukuyama Type Muscular Dystrophy
Dr. Katherine D. Mathews
Neurology | Pediatrics | Pediatric Neurology

State University Of Iowa

200 Hawkins Dr, 
Iowa City, IA 
319-356-1616
Languages Spoken:
English
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Accepting New Patients

Katherine Mathews is a Neurologist and a Pediatrics provider in Iowa City, Iowa. Dr. Mathews and is rated as an Elite provider by MediFind in the treatment of Fukuyama Type Muscular Dystrophy. Her top areas of expertise are Limb-Girdle Muscular Dystrophy Type 2I, Limb-Girdle Muscular Dystrophy, Duchenne Muscular Dystrophy, and Friedreich Ataxia. Dr. Mathews is currently accepting new patients.

Elite in Fukuyama Type Muscular Dystrophy
Tatsushi Toda
Elite in Fukuyama Type Muscular Dystrophy
Tatsushi Toda
Tokyo, JP 

Tatsushi Toda practices in Tokyo, Japan. Toda and is rated as an Elite expert by MediFind in the treatment of Fukuyama Type Muscular Dystrophy. Their top areas of expertise are Walker-Warburg Syndrome, Fukuyama Type Muscular Dystrophy, Lissencephaly, Gastrostomy, and Thymectomy.

 
 
 
 
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Elite in Fukuyama Type Muscular Dystrophy
Mariko Ikeda-Taniguchi
Elite in Fukuyama Type Muscular Dystrophy
Mariko Ikeda-Taniguchi
Toyoake, JP 

Mariko Ikeda-Taniguchi practices in Toyoake, Japan. Ikeda-Taniguchi and is rated as an Elite expert by MediFind in the treatment of Fukuyama Type Muscular Dystrophy. 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?
Long-Term Development of Muscular Dystrophy Outcome Assessments (GRASP-01-005)
Long-Term Development of Muscular Dystrophy Outcome Assessments (GRASP-01-005)
Enrollment Status: Recruiting
Publish Date: November 04, 2024

Summary: This is a 24-month, observational study of up to 1000 participants with Limb Girdle Muscular Dystrophy (LGMD), Myotonic Dystrophy Type 2 (DM2), and late onset Pompe disease (LOPD).

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Global Fukutin-Related Protein Registry
Global Fukutin-Related Protein Registry
Enrollment Status: Recruiting
Publish Date: January 30, 2024
Intervention Type: Other

Summary: Mutations in the Fukutin Related Protein (FKRP) gene cause the condition Limb Girdle Muscular Dystrophy type R9 (LGMDR9) also known as LGMD2I, and the rarer conditions Congenital Muscular Dystrophy (MDC1C), Muscle Eye Brain Disease (MEB) and Walker-Warburg Syndrome (WWS). LGMDR9 is the most common FKRP-related condition, and is especially prevalent in Northern Europe. The aim is to facilitate a qu...

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