Autosomal dominant limb-girdle muscular dystrophy type 1A (LGMD1A) 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 gene encoding the protein calpain-3. Symptoms of LGMD1A usually begin in childhood or adolescence and include muscle weakness and wasting, difficulty walking, and joint contractures. Over time, the condition can lead to respiratory and cardiac complications. Treatment is focused on managing symptoms and preventing complications.

The symptoms of Autosomal dominant limb-girdle muscular dystrophy type 1A (LGMD1A) include:

-Progressive Muscle Weakness and wasting in the hips, shoulders, and upper arms
-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
-Impaired vision and hearing
-Learning disabilities
-Mental health issues such as depression and anxiety

Autosomal dominant limb-girdle muscular dystrophy type 1A (LGMD1A) is caused by mutations in the calpain-3 gene. This gene provides instructions for making an enzyme called calpain-3, which is involved in muscle development and maintenance. Mutations in this gene lead to a decrease in the amount of functional calpain-3 enzyme, which causes the muscle weakness and wasting associated with LGMD1A.

1. Physical therapy: Physical therapy can help to maintain muscle strength and flexibility, improve range of motion, and reduce pain.

2. Assistive devices: Assistive devices such as braces, canes, and walkers can help to improve mobility and reduce the risk of falls.

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

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

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

1. Age: Autosomal dominant limb-girdle muscular dystrophy type 1A (LGMD1A) typically presents in childhood or adolescence.

2. Family history: LGMD1A is inherited in an autosomal dominant pattern, meaning that a person has a 50% chance of inheriting the gene mutation from an affected parent.

3. Gender: LGMD1A is more common in males than females.

4. Ethnicity: LGMD1A is more common in certain ethnic groups, such as those of Mediterranean descent.

At this time, there is no cure for autosomal dominant limb-girdle muscular dystrophy type 1A. 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.