Duchenne muscle dystrophy

DIAGNOSIS

Diagnosis
• The symptoms present before age 5 years, and they often have exceedingly raised creatine kinase blood levels.
• A clinical examination may be made if a boy has progressive proportional muscle weakness.
• A muscle biopsy can be done to look for abnormal levels of dystrophin in the muscle. Someone with Duchenne will have an absence of dystrophin and appear to have an absence of the protection around the muscle cells.
• Genetic testing on a blood sample for alteration in the DMD gene too can help establish the diagnosis of Duchenne muscular dystrophy without even carrying out a muscle biopsy. Yet, the results of genetic testing may not be conclusive of a diagnosis of DMD, and only the muscle biopsy is more accurate.
• For remainder, a sequence of clinical findings, family history, blood creatine kinase concentration and muscle biopsy with dystrophin studies confirms the diagnosis.
• Affected individuals can have delayed motor developments. Thus as a result of the proximal muscle weakness, most are unable to run and jump properly. Most patients are diagnosed at approximately 5 years of age, when their physical ability differs drastically from that of their companions.
• . Duchenne muscular dystrophy is diagnosed when the gene for the protein dystrophin are shown to be absent or abnormal in blood tests and when a muscle biopsy (removal of a piece of muscle tissue for examination under a microscope) shows extremely low levels of dystrophin in the muscle. Fat and other tissues replace the dead muscle tissue in the late stages of Duchenne muscular dystrophy.

posted by Kiwi @ 12:57 AM