Autosomal dominant limb-girdle muscular dystrophy type 1H (LGMD1H) is a rare, inherited form of muscular dystrophy that affects the muscles of the arms and legs. It is caused by a mutation in the CAPN3 gene, which is responsible for producing the protein calpain-3. This protein is important for muscle function and maintenance. People with LGMD1H experience progressive muscle weakness and wasting, which can lead to difficulty walking, climbing stairs, and performing daily activities.

The symptoms of Autosomal dominant limb-girdle muscular dystrophy type 1H (LGMD1H) can vary from person to person, but typically include:

-Progressive Muscle Weakness and wasting in the hips and shoulders
-Difficulty walking, climbing stairs, and rising from a seated position
-Difficulty lifting objects
-Muscle cramps and pain
-Joint contractures
-Cardiomyopathy (heart muscle disease)
-Respiratory problems
-Gastrointestinal problems
-Fatigue

Autosomal dominant limb-girdle muscular dystrophy type 1H is caused by a mutation 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 a decrease in the amount of functional calpain-3 protein, which causes the muscle weakness and wasting associated with this disorder.

1. Physical therapy: Physical therapy can help to maintain muscle strength and function, as well as improve range of motion and flexibility.

2. Occupational therapy: Occupational therapy can help to improve daily activities and independence.

3. Assistive devices: Assistive devices such as wheelchairs, walkers, and braces can help to improve mobility.

4. Medications: Medications such as corticosteroids and immunosuppressants can help to reduce inflammation and improve muscle strength.

5. Surgery: Surgery may be recommended to correct joint deformities or to improve mobility.

6. Gene therapy: Gene therapy is a promising new treatment option for some types of limb-girdle muscular dystrophy.

1. Family history: Autosomal dominant limb-girdle muscular dystrophy type 1H is an inherited disorder, so having a family history of the condition increases the risk of developing it.

2. Age: The risk of developing Autosomal dominant limb-girdle muscular dystrophy type 1H increases with age.

3. Gender: Autosomal dominant limb-girdle muscular dystrophy type 1H is more common in males than females.

4. Ethnicity: Autosomal dominant limb-girdle muscular dystrophy type 1H is more common in certain ethnic groups, such as those of African, Mediterranean, and Middle Eastern descent.

At this time, there is no cure for autosomal dominant limb-girdle muscular dystrophy type 1H. 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; anticonvulsants, which can help reduce muscle spasms; and immunosuppressants, which can help reduce the body's immune response. Physical therapy and occupational therapy can also help improve muscle strength and function.