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 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, Dystrophinopathy, and Friedreich Ataxia. Dr. Mathews is currently accepting new patients.

Sam Fatoorehchi
Advanced in Fukuyama Type Muscular Dystrophy
Dr. Sam Fatoorehchi
Family Medicine
Advanced in Fukuyama Type Muscular Dystrophy
Dr. Sam Fatoorehchi
Family Medicine

Advocate Medical Group Primary Care

Chicago, IL 
773-292-2700
Languages Spoken:
English
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Sam Fatoorehchi is a primary care provider, practicing in Family Medicine in Chicago, Illinois. Dr. Fatoorehchi is rated as an Advanced provider by MediFind in the treatment of Fukuyama Type Muscular Dystrophy. His top areas of expertise are Miyoshi Myopathy, Delta-Sarcoglycanopathy, Walker-Warburg Syndrome, and Fukuyama Type Muscular Dystrophy.

 
 
 
 
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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 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, Thrombectomy, and Thymectomy.

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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 18, 2025

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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Online Study of People Who Have Genetic Changes and Features of Autism: Simons Searchlight
Online Study of People Who Have Genetic Changes and Features of Autism: Simons Searchlight
Enrollment Status: Recruiting
Publish Date: June 06, 2025

Summary: Simons Searchlight is an observational, online, international research program for families with rare genetic variants that cause neurodevelopmental disorders and may be associated with autism. Simons Searchlight collects medical, behavioral, learning, and developmental information from people who have these rare genetic changes. The goal of this study is to improve the clinical care and treatment...

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