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causes

This disease is inherited. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.

Therefore, the child will have this disease.

Autosomal recessive is one of several ways that a trait, disorder, or disease can be passed down through families.An autosomal recessive disorder means two copies of an abnormal gene must be present in order for the disease or trait to develop.

The first signs of the disorder appear in early infancy and include a weak cry, poor feeding, and weak muscle tone. Weakness of the facial muscles often leads to a poor facial appearance including droopy eyelids and an open mouth. In childhood, muscle weakness and joint deformities will restrict movement and interfere with the development of motor skills such as sitting, standing, and walking.

Fukuyama congenital muscular dystrophy also interferes with brain development.This can cause the brain to significantly delay development of speech/motor skills and severe intellectual disability. Most children with Fukuyama congenital muscular dystrophy are never able to stand or walk, although some can sit without support and slide across the floor. More than half of all affected children also experience seizures.

treatment

There is no cure for Fukuyama congenital muscular dystrophy at this time and no definitive treatment exists.

-Stretching, and physical therapy can increase mobility.

-correcting skeletal abnormalities can happen through orthopedic surgery and other orthopedic techniques.

-Antiepilleptic medication is administered to help prevent seizures.

-ACE inhibitors and beta blockers help treat heart conditions

Fukuyama

congenital

muscular

dystrophy

what is it??

Fukuyama congenital muscular dystrophy

is an inherited condition

that predominantly affects the muscles,

brain, and eyes. Congenital muscular

dystrophies are a group of genetic

conditions that cause muscle

weakness and wasting (atrophy)

beginning very early in life.

Cherise Harry

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