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 for 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.

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.
  • Journal: Journal of clinical neuroscience : official journal of the Neurosurgical Society of Australasia
  • Published —
FKRP mutations cause congenital muscular dystrophy 1C and limb-girdle muscular dystrophy 2I in Asian patients.
Clinical Trial
  • Status: Recruiting
  • Participants: 4000
  • Start Date: September 2009
Congenital Muscle Disease Patient and Proxy Reported Outcome Study
Clinical Trial
  • Status: Recruiting
  • Intervention Type: Other
  • Participants: 800
  • Start Date: November 2013
The Global FKRP Patient Registry