Released Date : 2021-01-30
Congenital muscular dystrophy treatment in India
What is Congenital muscular dystrophy?
Congenital muscular dystrophies are often apparent between birth and age 2. This is when parents begin to notice that their child’s motor functions and muscle control aren’t developing as they should. Symptoms vary and may include:
- Muscle weakness
- Poor motor control
- Inability to sit or stand without support
- Scoliosis
- Foot deformities
- Trouble swallowing
- Respiratory problems
- Vision problems
- Speech problems
- Intellectual impairment
The lifespan of someone with this type also varies, depending on the symptoms. Some people with congenital muscular dystrophy die in infancy while others live until adulthood.
Causes
It occurs when a faulty gene results in abnormal muscle function. The gene can be passed from parent to child, even if the parent does not have symptoms. Or, the child can be the first in their family to have muscular dystrophy. At least 30 types of congenital muscular dystrophy have been identified based on the specific gene defect involved.
Diagnosis
Diagnosing your child may include:
- Complete medical history and physical examination, including family history of any neuromuscular disease
- Electrodiagnostic tests (EMG/NCS): Neuromuscular neurologists assess muscle and nerve function using a machine that measures electrical signals in individual muscles and nerves.
- Laboratory tests: Tests may be performed to check muscle enzymes, as well as other clues to diagnosis.
- Imaging studies: Your doctor may want you to undergo ultrasound or magnetic resonance imaging (MRI).
- Biopsy: Muscle and nerve cells are examined under a microscope.
- Genetic testing: Examines individual genes to look for abnormalities known to cause congenital muscular dystrophy.
Treatment
Treatment of CMD may include:
- Medications to relieve symptoms
- Physical therapy for muscle weakness
- Respiratory therapy for breathing issues
- Occupational therapy for swallowing difficulties
- Behavioral therapy to address cognitive function
- Diet and nutrition counseling for patients with difficulty chewing or swallowing
- Social work consultations to connect you with community resources
- Congenital Muscular Dystrophy Clinical Trials
Frequently asked questions
Q.What are the symptoms of congenital muscular dystrophy?
- Congenital muscular dystrophy
- Muscle weakness
- Poor motor control
- Inability to sit or stand without support
- Scoliosis
- Foot deformities
- Trouble swallowing
- Respiratory problems
- Vision problems
Q.What is the best treatment for muscular dystrophy?
- Physical Therapy. Beginning physical therapy early can help keep muscles flexible and strong
- Respiratory Therapy
- Speech Therapy
- Occupational Therapy
- Surgery
Q.Who is most at risk for muscular dystrophy?
Muscular dystrophy occurs in both sexes and in all ages and races. However, the most common variety, Duchenne, usually occurs in young boys. People with a family history of muscular dystrophy are at higher risk of developing the disease or passing it on to their children.
Q.At what age is muscular dystrophy diagnosed?
Muscular dystrophy is usually diagnosed in children between 3 and 6 years of age. Early signs of the illness include a delay in walking, difficulty rising from a sitting or lying position, and frequent falling, with weakness affecting the shoulder and pelvic muscle.