Congenital muscular dystrophy treatment in India

Released Date: 2021-01-30

Congenital muscular dystrophy causes,symptoms and treatment

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.