Spinal Muscular Atrophy Lower Extremity Autosomal Dominant Type 2 (SMA-LED2) is a rare genetic disorder characterized by muscle weakness and atrophy, predominantly affecting the lower limbs. It is caused by mutations in the BICD2 gene. Understanding the symptoms of this condition is crucial for early diagnosis and management. DNA Labs UAE offers a comprehensive genetic test for SMA-LED2, aimed at identifying mutations in the BICD2 gene, crucial for individuals with a family history or symptoms of the disorder.
Symptoms of BICD2 Gene Spinal Muscular Atrophy Lower Extremity Autosomal Dominant Type 2
The symptoms of SMA-LED2 vary among individuals but generally include the progressive weakness and wasting of the muscles in the lower limbs. These symptoms often lead to difficulties in walking, running, and eventually mobility. Early signs can manifest in childhood or adolescence and may include:
- Reduced muscle tone and strength in the legs
- Difficulty standing from a sitting position
- Frequent falls and clumsiness
- Walking on tiptoes or with a waddling gait
- Muscle cramps and tightness
- Progressive difficulty in walking or inability to walk
As the condition progresses, individuals may experience further complications, including joint deformities and respiratory issues due to the weakening of the chest muscles. It is important to note that the upper limbs and cognitive abilities are typically not affected by SMA-LED2.
Genetic Test for BICD2 Gene Spinal Muscular Atrophy Lower Extremity Autosomal Dominant Type 2
DNA Labs UAE provides a specialized genetic test designed to identify mutations in the BICD2 gene associated with SMA-LED2. This test is a crucial tool for confirming the diagnosis, especially in individuals who exhibit symptoms or have a family history of the disorder. The test involves a simple blood draw or saliva sample, which is then analyzed using advanced genetic sequencing techniques to detect mutations in the BICD2 gene.
The cost of the genetic test for SMA-LED2 at DNA Labs UAE is 4400 AED. This price includes the collection of the sample, analysis, and a comprehensive report of the findings. The report not only confirms the presence of BICD2 gene mutations but also provides valuable information for the management of the condition. This includes potential treatment strategies, recommendations for physical therapy, and guidance on monitoring and managing the progression of symptoms.
For more information or to schedule a genetic test for BICD2 Gene Spinal Muscular Atrophy Lower Extremity Autosomal Dominant Type 2, please visit DNA Labs UAE.
Early diagnosis through genetic testing is crucial for the management of SMA-LED2. It enables individuals and their families to understand the condition better, plan for the future, and take proactive steps towards managing symptoms and maintaining mobility and quality of life for as long as possible.
