What is “Muscular Dystrophy”?
Muscular Dystrophy is a group of conditions marked by wasting and progressive weakness of the skeletal muscles
(those that control body movement). It is a group of genetically inherited primary muscle diseases where progressive
muscular weakness is noticed.
Overview of Myopathic Diseases
Myopathies are primary skeletal muscle disorders resulting in chronic muscular weakness. They are divided into five broader categories:
- Hereditary (these are termed Muscular Dystrophy)
- Inflammatory
- Endocrine
- Metabolic
- Toxic
Only hereditary myopathies are termed “Muscular Dystrophy”.
What Causes Muscular Dystrophy?
It is caused by a defective gene.
Where does this “defective gene” affect?
Slowly, muscle cells are not able to produce a specific protein named dystrophin, which helps keep muscle cells
intact and stabilizes the plasma membrane during muscular contractions.
How can one detect this disease in the family?
- Child complaining of primary muscular weakness
- Abnormal fatigue
- Repeated falling
- Not walking as a normal child
- Not climbing as a normal child
How is Muscular Dystrophy detected in clinic?
- By family history
- By doctor’s examination (clinical examination)
- By laboratory tests
Laboratory tests to screen carrier & affected person/child
(Before Birth) Prenatal diagnosis:
- Family member screening for defective gene by DNA diagnosis
- Amniotic fluid / Chorionic Villus Sample (CVS) used for DNA diagnosis
(After Birth) Postnatal diagnosis:
- CPK detected from blood (Creatine Phosphokinase may increase up to ~50 times normal)
- DNA diagnosis detects mutation in the gene responsible for Muscular Dystrophy
What is DNA diagnosis?
DNA diagnosis is a genetics method where molecular techniques are used to study differences in DNA base-pair sequences.
Molecular genetics helps study the expression and inheritance of genes at the molecular level.
What specimens are taken for DNA analysis?
- Any nucleated cells of the body (commonly white blood cells)
- Hair roots, mouth scraping, and sperms may also be used
Remedies / Treatment
There is no single medicine/therapy that cures muscular dystrophy. All drugs/therapies are supportive.
Important measures along with medicines include physiotherapy, respiratory exercises, recreational activities, and counseling.
Why should one know about Muscular Dystrophy?
- It affects many people; thousands of Indians suffer from muscular dystrophy
- Almost 2/3 of cases are children
- It can affect anyone irrespective of caste, creed, color, nationality, or religion
- Some kinds develop in teens, others in twenties or even middle age
- There is no cure to date
What we expect from you
- Help explain that genetic disorders can be preventable with appropriate counseling and testing
- Explain at least one person every day about genetic diseases and prevention
- Counsel young people about inherited diseases
- Encourage DNA diagnosis/testing where medically advised (e.g., before marriage/planning a family)
