Emphasis on managing muscular dystrophy

Hereditary condition presents challenges for patients, families

PORTSMOUTH There are a lot of muscular disorders that can occur in life, but doctors say the condition known as muscular dystrophy is hereditary and will begin to present in childhood.

Muscular dystrophy is marked by a progressive weakening and wasting of muscles. It can affect the heart and other organs, and breathing and swallowing. Limbs draw inward and become fixed (contracture). Eventually, the patient will require a wheelchair. There is no cure and the disease will ultimately lead to death. Treatment is palliative, for comfort and to try to slow the disease progression.

Dr. Douglas Black, a neurologist at Portsmouth Regional Hospital, said that, as an inherited condition, muscular dystrophy can present in infants. Called the floppy baby syndrome, infants carrying the trait will have very low muscle tone.

"When we think about the disease in children it is the Duchenne version, as in the condition the Jerry Lewis telethon is about," Black said. "It is the most common and children afflicted rarely live past age 20. There is Becker muscular dystrophy, a milder version. Becker may not present until the person is a young adult and the life span is generally longer."

The Duchenne form of muscular dystrophy comes from a dominant gene in parents and, if present, the child will be affected. Black said the Becker is a recessive gene on the X chromosome and both parents must carry the trait in order to pass it on.

"Treating muscular dystrophy involves supportive care," Black said. "It might mean cardiac care and possibly a pacemaker. It will require genetic counseling for future generations. Depending on the amount of the disability, it can involve bracing, physical therapy and care to prevent pressure sores."

Respiratory therapy is usually used to minimize infections.

Physical therapist Heather Vivenzio is with Exeter Hospital's Pediatric Rehabilitation Center, which serves children from birth to age 21.

"There is no standard," Vivenzio said. "We treat individual needs because there is such a wide range of disability with muscular dystrophy. We will look at the functional skills of the child and treat them accordingly."

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Emphasis on managing muscular dystrophy