Arthrogryposis Distal Type 2B, also known as Freeman-Sheldon syndrome, is a rare genetic disorder that primarily affects muscle and bone development. It is characterized by joint deformities, primarily in the hands and feet, which are present from birth. The MYH3 gene has been closely linked to this condition, and understanding its symptoms is crucial for early diagnosis and management. DNA Labs UAE offers a specialized genetic test for the MYH3 gene to identify the presence of Arthrogryposis Distal Type 2B, providing essential information for affected families.
Understanding Arthrogryposis Distal Type 2B
Arthrogryposis Distal Type 2B is caused by mutations in the MYH3 gene, which plays a significant role in muscle development and function. This condition is inherited in an autosomal dominant pattern, meaning only one copy of the altered gene in each cell is sufficient to cause the disorder. The MYH3 gene mutations lead to muscle weakness and developmental abnormalities, resulting in the distinctive joint deformities seen in affected individuals.
Symptoms of Arthrogryposis Distal Type 2B
The symptoms of Arthrogryposis Distal Type 2B can vary significantly from one individual to another but generally include:
- Joint stiffness and deformities, particularly in the hands, feet, elbows, and knees
- Facial abnormalities such as a small mouth, a long philtrum, and a triangular face shape
- Difficulty with muscle movements and coordination
- Respiratory issues due to muscle weakness
- Developmental delays in some cases
Early diagnosis is crucial for managing the symptoms of Arthrogryposis Distal Type 2B and improving the quality of life for those affected. Genetic testing plays a pivotal role in confirming the diagnosis and facilitating early intervention strategies.
MYH3 Gene Arthrogryposis Distal Type 2B Genetic Test at DNA Labs UAE
DNA Labs UAE offers a comprehensive genetic test for the MYH3 gene to identify mutations associated with Arthrogryposis Distal Type 2B. This test is a valuable tool for families with a history of the condition or for individuals exhibiting symptoms suggestive of the disorder. The test involves a simple blood draw or cheek swab, and the sample is analyzed using advanced genetic sequencing techniques to detect the presence of MYH3 gene mutations.
Test Cost
The cost of the MYH3 Gene Arthrogryposis Distal Type 2B Genetic Test at DNA Labs UAE is 4400 AED. This price includes the cost of sample collection, genetic analysis, and a comprehensive report detailing the test results. The report also provides guidance on the next steps for affected individuals and their families.
Conclusion
Arthrogryposis Distal Type 2B is a challenging condition, but early diagnosis and intervention can significantly improve outcomes. The MYH3 Gene Arthrogryposis Distal Type 2B Genetic Test offered by DNA Labs UAE is a critical resource for affected families, providing them with the answers they need to pursue appropriate treatment and support. For more information and to schedule a test, visit DNA Labs UAE.
