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Good News for Sufferers of Duchenne Muscular Dystrophy

By Edited Nov 13, 2013 0 0

Childhood Muscular Dystrophy

The muscular dystrophy (MD) group of diseases are inherited. There are nine diseases which are always classified as MD and over 100 others which have similarities to the disease. The main characteristics of the nine include progressive skeletal muscle weakness, defects in proteins in the muscles and subsequent death of muscle cells and tissue.

One of the nine types of MD is Duchenne muscular dystrophy (DMD). This type rarely affects women although they may be carriers. The disease gets its name from Guillaume Benjamin Amand Duchenne, the French neurologist who first described the disease in 1861. Duchenne was born in 1806 and died in 1875.

In the early 1990s, researchers established that the gene for the dystrophin, a protein which provides structural stability to the cell membrane. The absence of dystrophin causes DMD and the less dystrophin the more severe the DMD. As the gene is on the X chromosome, females are carriers but may display milder symptoms.

Journey of Love: A Parent's Guide to Duchenne Muscular Dystrophy
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(price as of Oct 11, 2013)
This provides, as the title suggests,
information for parents of children
with Duchenne muscular dystrophy.

Symptoms may be visible in early infancy with males showing progressive weakness of the legs and pelvis together with a loss of muscle mass. The weakness then spreads to the arms, neck and other areas. The calf and deltoid muscles may enlarge, endurance is low and difficulties develop in standing unassisted. Ascending stairs becomes impossible. With time, muscle tissue wastes away to be replaced by fat and fibrotic tissue.

Later symptoms include abnormal bone development and skeletal deformity such as curvature of the spine. As progressive muscular deterioration progresses, paralysis results. Any intellectual impairment (which may or may not be present) does not get worse.

DMD has an incidence rate of 1 in every 4,000 newborn males. (One source gives the incidence as 1 in every 3,500 male children.) Most die before they turn 20 although a very few have survived to celebrate their 40th birthday. Most of those affected require a wheelchair by the age of 10. The disease eats away the muscles until eventually vital organs such as the heart and lungs are affected.

Occupational Therapy and Duchenne Muscular Dystrophy
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(price as of Oct 11, 2013)
A guide for occupational therapists and others
who come in contact with people with
Duchenne muscular dystrophy.

DMD is the most common form of MD found in children and is clinically evident when a child starts to walk. Sufferers have an awkward way of walking, often on the front of the feet because of enlarged calves. There may be frequent falls, fatigue and difficulty with motor skills such as hopping or jumping. Shortening of the achilles tendon, hamstrings and hip flexor muscles affects posture as well as movement. There may also be learning disorders and weaknesses in specific cognitive skills. Cardiomyopathy is common but there is seldom congestive heart failure of arrhythmias.

Until recently, treatment has been aimed at controlling the advance of the disease and maximising quality of life. However, scientists at the University of Western Australia believe they are on the verge of a breakthrough.

Researchers at the Australian Neuro-Muscular Research Institute have designed a compound that assists DMD sufferers to produce dystrophin. The compound was trialled in London on 19 children over 12 weeks. After the trial, it was reported that 'as a general trend all boys in the trial receiving high doses of the compound were making the missing protein'. A $700,000 grant from the Western Australian Health Department will allow extended trials of the compound to be conducted in Australia.

This is surely good news for all those parents watching their sons slowly deteriorate from Duchenne muscular dystrophy.

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