What is MD. (WHAT WE DO)

What is “Muscular Dystrophy” ? 

It’s a group of similar diseases marked by wasting and progressive weakness of the “skeletal Muscles” (those that control the body movement) Muscular Dystrophy is a group of generically-inherited primary muscle disease where unremitting and progressive muscular weakness is noticed. or Overview of Myopathic Disease Myopathies are primary skeletal muscle resulting in chronic Muscular weakness. 

It is divided into following have broader categories : (1) Hereditary (only these group of diseases are included under / termed as Muscular Dystrophy) (2) Inhammatory (3) Endocrine (4) Metabolic (5) Toxic 

What causes Muscular Dystrophy.

It’s Caused by “defective gene”. ONLY HEREDITARY MYOPATHIES ARE TERMED AS “MUSCULAR DYSTROPHY” Where does this “defective gone” 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 ABSENT IN DUCHENNES MUSCULAR DYSTROPHY [PSEUDO-MUSCULAR DYSTROPHY] ABNORMAL MOLECULAR WEIGHT OF DYSTROPHIN PRODUCED OR REDUCED AMOUNT OF DYSTROPHIN IS SEEN IN “BECKERS MUSCULAR DYSTROPHY”

How one can detect this disease in his/her family ? 

● Child complaining primary muscular weakness. 

● Child Complaining abnormal fatigue. 

● Repeated falling of child.

How Muscular Dystrophy is detected in “CLINIC” ? 

● Family History 

● By Dr’s EXAMINATION (i.e. Clinical Examination) 

● Laboratory Test

Which laboratory test helps to screen “carrier” & affected person / child ? 

(Before birth) Parental - Diagnosis : 

● Family members screening for defective gene by DNA diagnosis and others. 

● Amniotic fluid/Chorionic Villi Specimen (CVS) is used for DNA diagnosis. (After Birth) Biochemical method : 

● CPK - is detected from blood. 

● Creatine 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 a science of genetics. where certain molecular methods / techniques are used to study the “base pain” sequence difference in the “DNA”: thus “Molecular genetics” is a tool, which helps to study the expression and inheritance of genes at molecular level.