Childhood-onset progressive contractures-limb-girdle weakness-muscle dystrophy syndrome (CPC-LGMD) is a rare, inherited neuromuscular disorder characterized by progressive muscle weakness and contractures (permanent shortening of muscles and tendons) of the limbs and girdle muscles. It typically begins in childhood and progresses slowly over time. Affected individuals may experience difficulty walking, climbing stairs, and performing activities of daily living. Other symptoms may include muscle wasting, joint stiffness, and difficulty swallowing. Treatment is supportive and may include physical therapy, occupational therapy, and orthopedic devices.

The symptoms of Childhood-onset progressive contractures-limb-girdle weakness-muscle dystrophy syndrome (CPC-LGMD) vary from person to person, but may include:

-Progressive Muscle Weakness and wasting, especially in the hips, shoulders, and upper arms

-Contractures of the joints, especially in the hips, knees, and elbows

-Difficulty walking, running, and climbing stairs

-Difficulty with fine motor skills, such as writing and buttoning clothes

-Difficulty with swallowing and speaking

-Scoliosis

-Cardiomyopathy

-Respiratory problems

-Fatigue

-Pain in the muscles and joints

Childhood-onset progressive contractures-limb-girdle weakness-muscle dystrophy syndrome is caused by mutations in the CAPN3 gene. This gene provides instructions for making a protein called calpain 3, which is involved in muscle development and maintenance. Mutations in the CAPN3 gene lead to the production of an abnormally short, nonfunctional version of the calpain 3 protein, which disrupts muscle development and maintenance.

The treatments for Childhood-onset progressive contractures-limb-girdle weakness-muscle dystrophy syndrome are focused on managing the symptoms and slowing the progression of the disease. Treatment may include physical therapy, occupational therapy, speech therapy, orthopedic surgery, and medications to help manage pain and muscle spasms. In some cases, a feeding tube may be necessary to ensure adequate nutrition. Genetic counseling may also be recommended to help families understand the condition and plan for the future.

1. Genetic mutation: The most common cause of Childhood-onset progressive contractures-limb-girdle weakness-muscle dystrophy syndrome is a genetic mutation in the DYSF gene.

2. Family history: Having a family history of Childhood-onset progressive contractures-limb-girdle weakness-muscle dystrophy syndrome increases the risk of developing the condition.

3. Gender: Childhood-onset progressive contractures-limb-girdle weakness-muscle dystrophy syndrome is more common in males than females.

4. Age: The condition is more likely to occur in children under the age of 10.

Unfortunately, there is no cure for Childhood-onset progressive contractures-limb-girdle weakness-muscle dystrophy syndrome. However, there are medications that can help manage the symptoms of the condition. These medications include corticosteroids, which can help reduce inflammation and improve muscle strength; immunosuppressants, which can help reduce the body's immune response; and physical therapy, which can help improve range of motion and muscle strength.