ड्यूचेन मस्कुलर डिस्ट्रॉफी परिभाषा, कारण, लक्षण, जटिलताएं और लागत सर्जरी उपचार भारत में अस्पताल

परिभाषा

Duchenne muscular dystrophy (DMD) is a genetic disease. It occurs mostly in boys. Symptoms typically appear between ages 1-4 years old. The main sign of DMD is muscle weakness that worsens over time. Before age five, the muscles in the legs, arms, and trunk begin to weaken. Later in the disease the heart and respiratory muscles weaken.

This is a progressive, serious condition that requires care from your child’s doctor. If you suspect your child has this condition, contact the doctor promptly. There are many therapies used to treat the symptoms of this disease. They should be started as soon as possible.

का कारण बनता है

DMD is caused by a genetic mutation. The mutation causes the gene to make inadequate amounts of a protein called dystrophin. This protein is needed to keep muscles intact.

जोखिम कारक

These factors increase your child’s chance of having DMD. Tell your doctor if your child has any of these risk factors:

• परिवार के इतिहास
• Male

लक्षण

If your child has any of these symptoms do not assume it is due to DMD. These may be caused by other conditions. Tell your doctor if your child has any of these:

• Child is late in learning to walk
• Larger than normal calf muscles
• Frequent falls
• Walks clumsily
• Difficulty climbing stairs
• Trouble running
• Walking on toes or balls of feet
• Trouble with balance
• Walks with shoulders back and belly out
• Doesn’t run
• Trouble keeping up with friends when playing
• Uses hands to climb up his body when getting up from floor (Gower’s maneuver)
• Later in the disease these symptoms can occur:
  • Muscle contractures (a shortening of the muscle that traps a joint in a contracted position)
  • पार्श्वकुब्जता
  • Weakness to respiratory muscles
  • Cardiomyopathy (weakness of heart muscle)
  • Learning disabilities

निदान

Your doctor will ask about your child’s symptoms and medical history. A physical exam will be done. Your doctor will also ask if there is any family history of neuromuscular disease. The exam will focus on your child’s muscles. The doctor will look for signs of weakness. You will likely be referred to a specialist.

परीक्षण शामिल हो सकते हैं निम्नलिखित:

• Muscle biopsy —test that removes a small piece of muscle for examination; used to detect abnormalities in the muscle
• CK levels in blood—blood test used to measure creatine kinase, an enzyme found in damaged muscle
• Genetic testing—blood test that identifies genetic mutation of DMD
• Electromyography (EMG)—test that measures how well the nerves and muscles work; used to detect muscle problems