Adenylosuccinate synthetase-like 1-related distal myopathy (ASL1-RD) is a rare, inherited neuromuscular disorder characterized by progressive muscle weakness and wasting (atrophy) in the lower legs and feet. It is caused by mutations in the ASL1 gene, which is responsible for producing an enzyme called adenylosuccinate synthetase. This enzyme is involved in the production of purines, which are essential components of DNA and RNA. Mutations in the ASL1 gene lead to a decrease in the amount of adenylosuccinate synthetase, resulting in a decrease in the production of purines and an accumulation of toxic metabolites in the muscles. This leads to progressive muscle weakness and wasting.

The symptoms of Adenylosuccinate synthetase-like 1-related distal myopathy can vary from person to person, but typically include:

- Muscle Weakness in the lower legs and feet
- Difficulty walking or standing
- Muscle cramps or spasms
- Muscle wasting
- Difficulty climbing stairs
- Difficulty rising from a seated position
- Foot drop
- Loss of balance
- Fatigue
- Joint pain
- Difficulty with fine motor skills

Adenylosuccinate synthetase-like 1-related distal myopathy is a rare genetic disorder caused by mutations in the ADSL gene. The exact cause of the disorder is unknown, but it is believed to be caused by a combination of genetic and environmental factors. Mutations in the ADSL gene can lead to a decrease in the production of adenylosuccinate synthetase, an enzyme involved in the production of energy in the body. This can lead to muscle weakness and wasting, as well as other symptoms.

1. Physical therapy: Physical therapy is an important part of treatment for Adenylosuccinate synthetase-like 1-related distal myopathy. Physical therapy can help improve strength, flexibility, balance, and coordination.

2. Occupational therapy: Occupational therapy can help people with Adenylosuccinate synthetase-like 1-related distal myopathy learn how to adapt to their condition and perform daily activities.

3. Assistive devices: Assistive devices, such as canes, walkers, and wheelchairs, can help people with Adenylosuccinate synthetase-like 1-related distal myopathy move around more easily.

4. Medications: Medications, such as muscle relaxants and pain relievers, can help reduce muscle spasms and pain associated with Adenylosucc

1. Genetic mutation in the ADSL gene
2. Family history of distal myopathy
3. Age (onset typically occurs in adulthood)
4. Gender (males are more likely to be affected)
5. Ethnicity (higher prevalence in individuals of European descent)
6. Exposure to certain environmental toxins or medications

At this time, there is no known cure or medications for Adenylosuccinate synthetase-like 1-related distal myopathy. Treatment focuses on managing symptoms and preventing further muscle damage. This may include physical therapy, occupational therapy, and medications to reduce muscle spasms and pain.