Calpain-3-related limb-girdle muscular dystrophy R1 (LGMD R1) is a rare, inherited neuromuscular disorder caused by mutations in the CAPN3 gene. It is characterized by progressive muscle weakness and wasting, primarily affecting the muscles of the hips and shoulders. Symptoms usually begin in childhood or adolescence and can range from mild to severe. Common symptoms include difficulty walking, climbing stairs, and lifting objects. Other symptoms may include muscle cramps, joint contractures, and difficulty swallowing. There is currently no cure for LGMD R1, but physical therapy, occupational therapy, and medications can help manage symptoms.

The symptoms of Calpain-3-related limb-girdle muscular dystrophy R1 can vary from person to person, but typically include:

-Muscle Weakness and wasting, usually beginning in the hips and shoulders
-Difficulty walking, climbing stairs, and lifting objects
-Muscle cramps and spasms
-Joint contractures
-Difficulty swallowing
-Cardiac abnormalities
-Respiratory problems
-Fatigue
-Difficulty with fine motor skills

Calpain-3-related limb-girdle muscular dystrophy R1 is caused by mutations in the CAPN3 gene. This gene provides instructions for making an enzyme called calpain-3, which is involved in muscle development and maintenance. Mutations in the CAPN3 gene reduce or eliminate the activity of calpain-3, leading to muscle weakness and wasting.

1. Physical therapy: Physical therapy can help improve strength, flexibility, and range of motion.

2. Occupational therapy: Occupational therapy can help with activities of daily living, such as dressing, bathing, and eating.

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

4. Medications: Medications, such as corticosteroids, can help 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 Calpain-3-related limb-girdle muscular dystrophy R1.

1. Genetic mutation in the CAPN3 gene
2. Family history of the disorder
3. Age of onset (usually between 5 and 15 years old)
4. Gender (more common in males)
5. Ethnicity (more common in people of Mediterranean descent)
6. Muscle weakness and wasting
7. Difficulty walking
8. Difficulty climbing stairs
9. Difficulty rising from a seated position
10. Difficulty lifting objects
11. Muscle cramps
12. Joint contractures
13. Cardiac arrhythmias
14. Respiratory problems
15. Cognitive impairment

At this time, there is no cure for Calpain-3-related limb-girdle muscular dystrophy R1. However, there are medications that can help manage the symptoms of the condition. These include medications to help with muscle weakness, such as corticosteroids, and medications to help with pain, such as nonsteroidal anti-inflammatory drugs (NSAIDs). Physical therapy and occupational therapy can also help to improve muscle strength and function.