BICD2-related autosomal dominant childhood-onset proximal spinal muscular atrophy (SMA) is a rare genetic disorder caused by mutations in the BICD2 gene. It is characterized by progressive muscle weakness and wasting, primarily affecting the muscles of the arms and legs. Symptoms usually begin in early childhood and can range from mild to severe. Treatment is supportive and may include physical therapy, occupational therapy, and medications to help manage symptoms.

The symptoms of BICD2-related autosomal dominant childhood-onset proximal spinal muscular Atrophy include:

-Muscle Weakness and wasting in the arms and legs
-Difficulty walking, running, and climbing stairs
-Difficulty with fine motor skills such as writing and buttoning
-Muscle cramps and twitching
-Loss of muscle tone
-Difficulty breathing
-Fatigue
-Scoliosis
-Joint contractures
-Difficulty swallowing

The exact cause of BICD2-related autosomal dominant childhood-onset proximal spinal muscular atrophy is unknown. However, it is believed to be caused by a mutation in the BICD2 gene, which is located on chromosome 17. This gene is responsible for the production of a protein called BICD2, which is involved in the transport of proteins within cells. Mutations in this gene can lead to a decrease in the amount of BICD2 protein, which can cause the symptoms of this disorder.

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

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 baclofen, dantrolene, and aminopyridine can help to reduce muscle spasms and improve muscle strength.

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

6. Gene therapy: Gene therapy is a promising treatment option for BICD2-related autosomal dominant childhood-onset proximal spinal muscular atrophy.

1. Family history of BICD2-related autosomal dominant childhood-onset proximal spinal muscular atrophy
2. Genetic mutations in the BICD2 gene
3. Age of onset of symptoms before the age of 10
4. Male gender
5. Ethnicity (higher prevalence in individuals of Ashkenazi Jewish descent)

At this time, there is no cure for BICD2-related autosomal dominant childhood-onset proximal spinal muscular atrophy. However, there are medications that can help manage the symptoms of the condition. These medications include antispasticity agents, such as baclofen and dantrolene, as well as medications to help with pain management. Physical therapy and occupational therapy can also help to improve muscle strength and function.