Limb-girdle muscular dystrophy (LGMD) is a diverse group of genetic disorders characterized by progressive weakness and degeneration of the muscles, primarily affecting the shoulder and pelvic girdles. Among the various types, LGMD type 2S, caused by mutations in the TRAPPC11 gene, represents a rare and autosomal recessive form of this condition. DNA Labs UAE is at the forefront of diagnosing this specific subtype through comprehensive genetic testing, providing essential information for affected individuals and their families.
The TRAPPC11 gene plays a significant role in muscle function and integrity. Mutations in this gene disrupt normal muscle maintenance, leading to the symptoms associated with LGMD type 2S. Understanding these symptoms is crucial for early diagnosis and management of the condition.
Symptoms of TRAPPC11 Gene Limb-girdle Muscular Dystrophy Autosomal Recessive Type 2S
The symptoms of LGMD type 2S typically manifest in late childhood to early adulthood, but the onset and progression can vary significantly among individuals. Key symptoms include:
- Muscle Weakness: Progressive weakness in the muscles of the hips, thighs, shoulders, and upper arms is a hallmark of LGMD type 2S. This weakness affects mobility and can lead to difficulty walking, climbing stairs, and lifting objects.
- Muscle Wasting: As the disease progresses, affected individuals may experience muscle wasting, particularly in the limbs.
- Difficulty Rising from a Sitting or Lying Position: Known as the Gowers’ sign, this difficulty is often one of the early signs of muscle weakness associated with LGMD.
- Walking Difficulties: The muscle weakness may lead to a waddling gait and eventually, in some cases, the need for wheelchair assistance.
- Joint Stiffness: Individuals may experience stiffness in the joints due to reduced mobility.
- Cardiac and Respiratory Involvement: In some cases, the heart and respiratory muscles may be affected, leading to complications.
It is important to note that the severity and progression of symptoms can vary widely among individuals. Early and accurate diagnosis through genetic testing is crucial for managing the condition and improving the quality of life for those affected.
Genetic Test for TRAPPC11 Gene Limb-girdle Muscular Dystrophy Autosomal Recessive Type 2S
DNA Labs UAE offers a comprehensive genetic test for diagnosing LGMD type 2S, caused by mutations in the TRAPPC11 gene. This test is pivotal for confirming the diagnosis, understanding the risk of passing the condition to future generations, and guiding treatment and management decisions.
The cost of the TRAPPC11 Gene Limb-girdle Muscular Dystrophy Autosomal Recessive Type 2S Genetic Test is 4400 AED. This investment in health provides invaluable information for affected individuals and their families, enabling them to take informed steps towards managing the condition.
For more information on this genetic test and to schedule a consultation, please visit DNA Labs UAE.
Early diagnosis through genetic testing can significantly impact the management of Limb-girdle Muscular Dystrophy type 2S. With advancements in genetic research and testing technologies, DNA Labs UAE remains committed to providing accurate, timely, and comprehensive diagnostic services to help individuals and families navigate the challenges of genetic disorders.
