Description

• An X linked recessive genetic disease in which mutations in the dystrophin gene results in a defective protein product
• Characterized by the ongoing destruction of muscle. It is progressive and is not limited to muscle and other system involvement may also be there
• Degeneration of muscle fibers causing proximal muscle weakness along with cardiomyopathy and bone fragility
• It progresses rapidly and most patients become dependent in late childhood and die during or before the second or third decade of life due to respiratory insufficiency or cardiomyopathy

Types

• Progressive muscle paresis and atrophy - Starts in the proximal lower limbs (pelvic girdle) and extends to the upper body and distal limbs as the disease progresses
• Weak reflexes
• Waddling gait (i.e., Duchenne limp) with bilateral Trendelenburg sign
• Gower maneuver - The individual arrives at a standing position by supporting themselves on their thighs and then using the hands to “walk-up” the body until they are upright. 
• Calf pseudohypertrophy 
• Scoliosis
• Inability to walk by approx. 12 years of age
• Cardiac and respiratory muscle involvement
• Dilated cardiomyopathy: a common cause of death
• Cardiac arrhythmias
• Respiratory insufficiency
• Cognitive impairment

Investigation

• CPK level will be very high(10 to 200 times higher than normal)
• MUSCLE BIOPSY: areas of degeneration and replacement of muscle tissue with fat
• EMG: myopathic pattern
• CARDIAC EVALUATION
• GENETIC STUDIES for mutation of the dystrophin gene

Treatments

• Avoid overweight
• Physiotherapy- passive stretching
• Proper braces to limit scoliosis
• Family screening with CPK

Ayurvedic Treatment

• Vatavyadhi chikitsa 
• Avoid severe massages as it may provoke muscle damage
• Avoid Snigdha ushna prayoga
• Deepana Pachana

Kashaya

• Gandharvahasthadi or Ashtavargam kashaya

• Up to 1 year: for mother: 2tsp sookshma choorna is boiled in 2 glass water, strained and given to mother. If agni bala permits give 1 tsp thrice to the child
• 1 year to 5 years: ½ tsp powder boiled in 1 glass of water and given as divided doses mixed with sugar or jaggery
• 5 years to 10 years: 1 tsp powder boiled in 1 glass of water and given as divided doses mixed with sugar or jaggery
• 10 years-15 years: 1 ½ tsp powder boiled in 1 glass of water and given twice daily mixed with sugar or jaggery

Samanaoushasa

• Sahacharadi kashaya
• Sahacharadi sevya – begin with 2-3 drops 

Rasayana prayoga

• Chyavanaprasa - 1 tsp and gradually increase the dose

Procedures

• Shashtika pralepa (anushna) with strict monitoring
• Rooksha pralepa 

Vasthi 

• Dwipanchamooladi Vasthi or Mustadi Rajayapana Vasti
  • 1 year – 4 years: 50ml – 200ml
  • 4 years – 6 years: 200ml – 300ml
  • 6 years to 10 years: 300 – 500 ml
  • 12 years – 16 years: 500-800 ml

Department

Kaumarabhrithya