What is the definition of Fukuyama Type Muscular Dystrophy?
Fukuyama type muscular dystrophy (FCMD) affects the muscles and brain, causing muscle damage that gets worse over time. There are mild, typical, and severe forms of FCMD. Symptoms begin at birth and include a poor suck, weak cry, and floppiness. Later symptoms include severe speech delay, intellectual disability, seizures, and visual impairment. Over time, muscle damage can lead to heart, breathing, and swallowing problems. Many people with Fukuyama type muscular dystrophy die in early adulthood due to respiratory or heart failure. Fukuyama type muscular dystrophy is caused by genetic variants in the FKTN gene and is inherited in an autosomal recessive pattern. Diagnosis is based on the symptoms, clinical exam, imaging studies of the brain, and confirmed by the results of genetic testing. Treatment is focused on managing the symptoms.
What are the alternative names for Fukuyama Type Muscular Dystrophy?
- Muscular dystrophy, congenital progressive, with mental retardation
- Muscular dystrophy, congenital, with central nervous system involvement
- Muscular dystrophy, congenital, Fukuyama type
- Cerebromuscular dystrophy, Fukuyama type
What are the causes for Fukuyama Type Muscular Dystrophy?
Fukuyama type muscular dystrophy is caused by the FKTN gene not working correctly. DNA changes known as pathogenic variants are responsible for making genes work incorrectly or sometimes, not at all.
What are the symptoms for Fukuyama Type Muscular Dystrophy?
The following list includes the most common signs and symptoms in people with Fukuyama type muscular dystrophy. These features may be different from person to person. Some people may have more symptoms than others and symptoms can range from mild to severe. This list does not include every symptom or feature that has been described in this condition.
Symptoms may include:
- Low muscle tone (hypotonia)
- Poor feeding
- Weak cry
- Speech delay
- Intellectual disability
- Vision problems
- Swallowing difficulty (dysphagia)
- Heart muscle damage (cardiomyopathy)
- Difficulty breathing
There are mild, typical, and severe forms of Fukuyama type muscular dystrophy (FCMD). The first symptoms occur in infancy and include low muscle tone, floppiness, trouble feeding, and a weak cry. Children with FCMD have delays in developing motor skills and speech. Imaging studies of the brain of people with FCMD typically show a 'cobblestone' appearance. Muscle damage gets worse over time and many people with FCMD die in early adulthood from respiratory problems or heart failure.
What are the current treatments for Fukuyama Type Muscular Dystrophy?
Treatment for Fukuyama type muscular dystrophy is focused on managing the symptoms. Treatment options may include medication for seizures, physical therapy, and surgery to place a gastrostomy tube to help with feeding.Guidelines for management of people with FCMD have been published.
Specialists involved in the care of someone with Fukuyama type muscular dystrophy may include:
- Physical therapist
- Speech pathologist
How is Fukuyama Type Muscular Dystrophy diagnosed?
Fukuyama type muscular dystrophy (FCMD) is diagnosed based on the symptoms, clinical exam, and imaging studies (MRI) of the brain. The diagnosis may be confirmed by the results of genetic testing. Diagnostic guidelines for FCMD have been published.
Is Fukuyama Type Muscular Dystrophy an inherited disorder?
Fukuyama type muscular dystrophy is inherited in an autosomal recessive pattern. All individuals inherit two copies of each gene. Autosomal means the gene is found on one of the numbered chromosomes found in both sexes. Recessive means that both copies of the responsible gene must be altered to have the condition.
People with autosomal recessive conditions inherit one alteration from each of their parents. The parents, who each have one gene alteration, are known as carriers. Carriers of an autosomal recessive condition typically do not have any signs or symptoms (they are unaffected). When two carriers of an autosomal recessive condition have children, there is a 25% (1 in 4) chance to have a child with the condition.