Can PCR detect muscular dystrophy?
CONCLUSIONS–Multiplex PCR represents a sensitive and accurate method for deletion detection of 46% of all cases of DMD/BMD. The method requires 1 day for analysis, is easy to perform, and does not use radioactive tracers.
What is DMD test?
The doctor will take a sample of your child’s blood and test it for creatine kinase, an enzyme that your muscles release when they are damaged. A high CK level is a sign that your child could have DMD. Gene tests. Doctors can also test the blood sample to look for a change in the dystrophin gene that causes DMD.
How does DMD get diagnosed?
In diagnosing any form of muscular dystrophy, a doctor usually begins by taking a patient and family history and performing a physical examination. Doctors may find pseudohypertrophy, lumbar spine deviation, gait abnormalities, and several grades of diminished muscle reflexes.
Which enzyme assay will be used to detect DMD?
The most commonly used restriction enzyme for DMD analysis is HindIII because the restriction pattern for all 79 exons is known and the majority of exons are on single fragments. BglII and EcoRI are also commonly used enzymes.
When do DMD symptoms start?
DMD symptom onset is in early childhood, usually between ages 2 and 3. The disease primarily affects boys, but in rare cases it can affect girls.
When is DMD diagnosed?
A clinical diagnosis may be made when a boy has progressive symmetrical muscle weakness. The symptoms present before age 5 years, and they often have extremely elevated creatine kinase blood levels (which are described below) . If untreated, the affected boys become wheelchair dependent before age 13 years.
How is multiplex PCR used to detect DMD?
Therefore, multiplex PCR is one feasible method to detect DMD gene deletion in Indonesian DMD/BMD patients that can further determine the potential amenability of exon skipping therapy. In addition, this study is the first report of DMD gene deletion analysis in Indonesia.
How many gene deletions are found in multiplex PCR?
Multiplex PCR revealed the DMD gene deletions in 15 (44.1%) cases. Seventy-eight percent of deletions were clustered in the hot-spot region of exon 43 to 52. Furthermore, seven (20.5%) patients were potentially amenable to exon skipping treatment.
Which is the first report of DMD gene deletions in Indonesia?
In addition, this study is the first report of DMD gene deletion analysis in Indonesia. Duchenne and Becker muscular dystrophies (DMD; MIM 310200/BMD; MIM 300376) are X-linked recessive neuromuscular disorders.
Which is the most severe form of Duchenne muscular dystrophies?
Duchenne and Becker muscular dystrophies (DMD; MIM 310200/BMD; MIM 300376) are X-linked recessive neuromuscular disorders. DMD is the most common and most severe form, with an incidence of one in 3500–5000 live male births [ 1 ]. DMD/BMD is caused by mutations in the DMD gene on the Xp21.2 region (MIM 300377).
