We love our son Alex very much. Three months before Alexander's sixth birthday (1995) he was diagnosed with the Duchenne
form of Muscular Dystrophy (DMD).
At the time of the diagnosis I had no idea what muscular dystrophy was. As the initial shock began to wear off I started to
collect any information I could on the disease. This is an attempt to consolidate this mass of data into a format somewhere
between lay terminology and the next level of technical detail.
I in no way claim to fully understand all of the medical information I have sifted through and if any mistakes are found I would
appreciate being corrected. There are various forms of muscular dystrophy which differ in severity, age of onset, rate of progress and
muscle groups affected. This paper focuses on
Duchenne muscular dystrophy. I hope this will be of some help in understanding DMD.
Hope this helps - but the only real solution is in God thru His Son Jesus.
Introduction | Definition
| Diagnosis | Phenotype
| Prognosis
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Introduction | Definition
| Diagnosis | Phenotype
| Prognosis
Back To Main Menu
Some outward signs that lead to a diagnosis of DMD are unusually large calf muscles, walking on tiptoes, runs "funny", trouble with stairs. Diagnosis is confirmed using several tests such as: (1) a blood test to detect an enzyme (CPK=creatine phosphokinase) that leaks into the blood from degenerating muscles (2) a muscle biopsy which removes a small piece of muscle tissue to analyze (3) the electromyogram (EMG) places small electrodes into the muscle to create a graph of muscle health (4) polymerase chain reaction (PCR) analysis of blood/DNA samples.
On 11/27/95, as a result of multiplex PCR analysis (DNA/blood analysis), the diagnosis was - "Alexander has a
deletion in the DMD
gene that encompasses exons 50-54. This
deletion results in a frame-shift mutation, consistent with a diagnosis of
Duchenne. The results of multiplex PCR analysis:
exons number 50, 51, 52, 53, 54 are absent.
- Musculoskeletal Laboratory, A. I. duPont Institute.
Introduction | Definition
| Diagnosis | Phenotype
| Prognosis
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We had taken Alex to the family pediatrician after his mother noticed what she described as a slight curvature of his spine. Alex starting to walk late at about 18 months. He had difficulty getting up from the ground needing to walk his hands up his legs, pushing his upper body into a standing position. He also had great difficulty going up stairs. Alex would take one step at a time using his hands to push on his knees. We noticed that he had trouble keeping up with his friends and ran with a waddling motion. His pre-school teacher recommended we hold him back a year before continuing on to kindergarten.
As I learned about the disease, these classic text book symptoms were staggering. We were referred to the
Introduction | Definition
| Diagnosis | Phenotype
| Prognosis
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At this time (6/15/2004) there is no cure for DMD. The person develops outward signs of the disease at around 4-6 years of age. The progression varies from child to child however they are typically wheelchair bound by their teenage years. The ability to walk can be somewhat prolonged with a combination of orthopedic devices, physical therapy and sometimes surgery (heel cord lengthening).
Respiratory complications typically mark the final stage of the disease which usually claims the person's life during their twenties or thirties. With that being said, there are some enticing weapons on the horizon to help us defeat this terror that affects young men which are discussed in the section on DMD Treatment Options.
Introduction | Definition
| Diagnosis | Phenotype
| Prognosis
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