What is “Muscular Dystrophy” ?
Muscular Dystrophy is a group of generically-inherited primary muscle disease where unremitting and progressive muscular weaknesses noticed.
Overview of Myopathic Diseases
Myopathies are primary skeletal muscle resulting in chronic Muscular Weakness.It is divided into following five broader categories:
- Hereditary (only these group of diseases are included under /termed as Muscular Dystrophy)
- Inflammatory (3) Endocrine (4) Metabolic (5) Toxic
ONLY HEREDITARY MYOPATHIES ARE TERMED AS “ MUSCULAR DYSTROPHY ”
WHAT CAUSES MUSCULAR DYSTROPHY
It’s Caused by “defective gene”
WHERE DOES THIS ‘DEFECTIVE GENE’AFFECTS?
Slowly muscle cells are not able to produce a specific protein named
“ DYSTROPHIN” , which helps to keep muscle cells intact and stabilize plasma membrane during muscular contractions.
DYSTROPHIN IS ABESNT IN DUCENNES MUSCULAR DYSTROPHY ( PHEUDO-MUSCULAR DYSTROPHY) ABDNORMAL MOLECULAR WEIGHT OF DYSTROPHIN PRODUCED OR REDUCED AMOUNJT OF DYSTROPHIN IS SEENIN ‘BECKERS MUSCULAR DUSTROPHY
How one can detect this disease in his / her family ?
- Child complaining primary muscular weakness.
- Child complaining abnormal fatigue.
- Repeated falling of child.
- Not walking as normal Child.
- Not climbing as normal Child.
HOW MUSCULAR DYSTROPY IS DETECTED IN ‘ CLINIC’?
-By Family History
-By Dr’s Examination (i.e. Clinical Examination)
-By Laboratory Test
WHICH LABROTORY TEST TO SCREEN ‘CARRIER’& AFFECTED PERSON / CHILD ?
(Before Birth)Parental-Diagnosis:
-Family members screening for defective gene by DNA diagnosis and others.
-Amniotic fluid / Chronic Ville Specimen (CVS)is used for DNA diagnosis.
(After Birth ) Parental-Diagnosis:
-CPK-is detected from blood.
-Cretin Phosphokinase is an enzyme, which increases 50 times then its normal value (normal value is 24-195 U/L)
-DNA-Diagnosis detects mutation in single gene responsible for Muscular Dystrophy.
Defective gene detection is possible from blood , tissue ,etc.
WHAT IS DNA –DIAGNOSIS ?
DNA Diagnosis is science of genetics, where certain molecular method /techniques are used to study the “base Pain” sequence difference in the “DNA” ; thus “ Molecular genetics” is a tool which help to study the expression and inheritance of genes at molecular level.
WHAT KINDS OF SPECIMENS ARE TAKEN FOR “DNA” DIAGNOSIS ?
DNA for analysis may be obtained from:
- Any nucleated Cells of the body.
- Most commonly used cells are white blood cells (W B Cs).
- Hair roots, mouth scrapping and sperms are also used.
WHAT IS THE REMADIES FOR MUSCULAR DYSTRROPHY?
- No single medicine / therapy cure muscular dystrophy.
- All drugs / therapy given are supportive.
OTHER IMPORTANT MEASURES ALONG WITH MEDICINE:
-Physiotherapy by experts.
-Respiratory Exercises.
- Recreational activities.
-Counseling.
WHY “ONE” SHOULD KNOW ABOUT “MUSCULAR DYSTROPHY”?
- because it affects many people. Many thousand’s of Indian suffers from Muscular Dystrophy.
- Almost 2/3rd of cases are children.
- It can strike anyone (without and cast, creed, color , nationality religion etc.
- Some kind of Muscular Dystrophy develops in teens, others in twenties or even middle age.
- Till date there is no cure for this disease.
WHAT WE EXPECT FROM YOU?
- Please explain all the genetic disorders are preventable.
- Explain at least one person everyday about genetic diseases and to stop abnormal child to take birth , stop marriage betweennearest relative.
- Counsel young people about inherited diseases other than muscular dystrophy too.
- Explain that to prevent such child , please go through DNA diagnosis before marriage.
- Best way to stop birth of abnormal child is to get DNA analysis report for any inherited diseases such as Muscular Dystrophy, Hemophilia, Sickle Cell Anemia, Cystic fibrosis hyper cholestremia etc.
