About Congenital muscular dystrophy with integrin alpha-7 deficiency

What is Congenital muscular dystrophy with integrin alpha-7 deficiency?

Congenital muscular dystrophy with integrin alpha-7 deficiency (CMD-7) is a rare, inherited disorder that affects the muscles and connective tissues. It is caused by a mutation in the ITGA7 gene, which encodes the integrin alpha-7 protein. This protein is important for the proper functioning of the muscles and connective tissues. People with CMD-7 typically experience muscle weakness, joint contractures, and scoliosis. They may also have difficulty walking, swallowing, and breathing. Treatment typically involves physical and occupational therapy, as well as medications to help manage symptoms.

What are the symptoms of Congenital muscular dystrophy with integrin alpha-7 deficiency?

The symptoms of Congenital muscular dystrophy with integrin alpha-7 deficiency vary from person to person, but may include:

-Delayed motor development
-Muscle weakness
-Muscle wasting
-Joint contractures
-Scoliosis
-Difficulty swallowing
-Respiratory problems
-Gastrointestinal problems
-Developmental delay
-Seizures
-Cognitive impairment
-Visual impairment
-Hearing impairment
-Cardiac abnormalities

What are the causes of Congenital muscular dystrophy with integrin alpha-7 deficiency?

Congenital muscular dystrophy with integrin alpha-7 deficiency is caused by mutations in the ITGA7 gene. This gene provides instructions for making a protein called integrin alpha-7, which is found in muscle cells. This protein helps muscle cells attach to the surrounding tissue and to each other. Mutations in the ITGA7 gene reduce the amount of functional integrin alpha-7 protein, which disrupts the attachment of muscle cells and leads to the signs and symptoms of this disorder.

What are the treatments for Congenital muscular dystrophy with integrin alpha-7 deficiency?

Currently, there is no specific treatment for Congenital muscular dystrophy with integrin alpha-7 deficiency. Treatment is focused on managing the symptoms and complications of the condition. This may include physical therapy, occupational therapy, speech therapy, orthopedic surgery, and medications to help with muscle spasms and pain. In some cases, a feeding tube may be necessary to ensure adequate nutrition. Genetic counseling may also be recommended for families affected by the condition.

What are the risk factors for Congenital muscular dystrophy with integrin alpha-7 deficiency?

1. Genetic mutation: Congenital muscular dystrophy with integrin alpha-7 deficiency is caused by a mutation in the ITGA7 gene.

2. Family history: Individuals with a family history of the disorder are at an increased risk of developing the condition.

3. Gender: Males are more likely to be affected than females.

4. Ethnicity: The disorder is more common in individuals of European descent.

Is there a cure/medications for Congenital muscular dystrophy with integrin alpha-7 deficiency?

At this time, there is no cure for Congenital muscular dystrophy with integrin alpha-7 deficiency. 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, and immunosuppressants, which can help reduce the body's immune response and reduce inflammation. Additionally, physical therapy and occupational therapy can help improve muscle strength and coordination.