The following is a summary of MD from a personal point of view. This point of view is one of my husband, Thom, whom is Living with Muscular Dystrophy. Thom was diagnosed with Congenital Myopathy at the age of 11, along with his 3 brothers and father. The congenital myopathies are a group of the 40 known neromuscular conditions which cause weakness and wasting of the muscles. In general, symptoms are present at birth but may not be recognized until later on in childhood or even in adult life, such as in Thom's case. Inheritence: Congenital Myopathy is generally an inherited disorder. Although the exact genetic cause is unknown, different patterns of inheritance are recognized; these are known as autosomal recessive and autosomal dominant. Thom and his brothers inherited Congenital Myopathy from their father, therefore they were effected in the autosomal dominant type of inheritance. In this manner of inheritance, one of the parents is affected, maybe mildly, but carries the abnormal gene. Each child (of either sex) of that affected parent has a 50% chance of being affected. In the autosomal recessive type, both parents are carriers of the condition, and the risk of a child of either sex being affected is 25%. Also in the recessive manner, onset is generally earlier, and the condition generally causes severe muscle weakness later on. In the remaining cases there does not appear to be a clear pattern of inheritance and these are described as 'sporadic' cases which means they occur randomly, with very little risk of other children in the family being affected. However, people who are themselves sporadic cases will be at risk of passing the condition on to their children.

Symptoms:

Generally, symptoms of Congenital Myopathy start in infancy, and may also be present at birth with hypotonia (floppiness), swallowing and breathing difficulties, joint contractures (limitation of joint movement) or dislocation of the hips. In later months, the child may be slow to crawl, stand or walk. In some cases the condition may improve after that time, depending on the degree of muscle weakness. However, children may still have a variety of symptoms such as recurrent chest infections. When Thom was 2, he had a very bad case of pneumonia in which he stayed in the hospital for quite a while. Other symptoms include drooping of the eyelids, drooling, swallowing difficulties, and weakness of the limbs and the trunk. Another symptom of Congenital Myopathy is the development of scoliosis, or curvature of the spine. A few years after Thom and his brothers was diagnosed with Congenital Myopathy, the doctors told them they had Scoliosis and they believed that it was a symptom of the myopathy.

Diagnosis:

The diagnosis of a Congenital Myopathy is usually determined from the patient history and examinations. However, the specific diagnosis of Congenital Myopathy is generally made by performing a muscle biopsy. Before doing a muscle biopsy, a few other tests may be done, such as a blood enzyme test and a nerve conduction velocity test. Although the nerve conduction velocity test may be able to show abnormal muscle activity that is generally seen in any myopathy, it is unable to define the exact type. Therefore, the muscle biopsy is the important test which will make the diagnosis. Thom's father and a couple of his brother's took both tests and a biopsy. Thom, however only took a blood enzyme and a nerve conduction velocity test.

Progression:

The condition is usually non-progressive or slowly progressive and the muscle weakness may improve after the second year of life. However, the earlier the onset of Congenital Myopathy, the more severe and progressive the disorder is. Some patients may become weaker in their 20s or 30s and may eventually lose the ability to walk. Thom was given a cane by the doctors at the MDA clinic about 5 years ago when he was 23. Prior to that, his knees would give out on him a lot and as a result he would stumble and fall. This only seemed to happen when he walked great distances. However, within the past few years he doesn't stumble as much as he used to. Occasionally muscle weakness may progress quite rapidly and patients experience serious breathing problems.

Thom:

I recently got the opportunity to visit a wonderful tribute page that Scorpion created for her father, who had MD. His touching story reminded me so much of Thom's life now. Everyday Thom endures a great deal of pain, but he never complains. He just lives each day to the fullest and cherishes each moment he shares with me... and I truly cherish each moment I share with him. In the past two years that we have been married, he has taught me so much, like how to be strong and face life, no matter how hard it may seem. He is truly a hero in my eyes and I love him so very much.

People like my husband and I and Scorpion's father and his family is why I created Living with MD. I want everyone who has or is faced with MD or any other disability to know the facts and other information. I also want them to know that they are not alone. There's always someone here for them to talk to anytime.

Please, be sure to visit Scorpion's site and the wonderful tribute to her father. Click here
Disclaimer: This page is an information guide only. This information has been accumulated from research of a variety of Muscular Dystrophy related resources. I offer this information to you with the understanding that it not be interpreted as medical or professional advice. All medical information needs to be carefully reviewed with your health care provider.

*HUGS*
Lesley aka Thomgirl :-)

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