Charcot-Marie-Tooth disease type 4D (CMT4D), also known as hereditary motor and sensory neuropathy Lom type, is a rare genetic disorder that affects the peripheral nerves. It is caused by mutations in the NDRG1 gene. This condition is part of a group of disorders known as Charcot-Marie-Tooth diseases, which are characterized by nerve degeneration and varying degrees of muscle weakness and atrophy, primarily in the limbs. Understanding the symptoms of CMT4D is crucial for early diagnosis and management. DNA Labs UAE offers a comprehensive genetic test for the NDRG1 gene, aiding in the diagnosis of CMT4D.
Symptoms of NDRG1 Gene CMT4D
The symptoms of CMT4D typically begin in childhood or adolescence, but the onset and severity can vary significantly among individuals. Key symptoms include:
- Progressive weakness and atrophy of the muscles in the feet and legs, often leading to difficulty walking and frequent tripping or falling.
- Sensory loss in the feet and lower legs, which may progress to the hands and arms in later stages, affecting the ability to feel pain, temperature, and touch.
- Decreased tendon reflexes, especially in the ankles.
- Development of high arches (pes cavus) or flat feet (pes planus).
- Nerve pain (neuropathy), which can range from mild to severe.
- Potential hearing loss and vocal cord paralysis in some cases, due to the involvement of other nerves.
These symptoms are progressive, meaning they can worsen over time. Early diagnosis through genetic testing can be crucial in managing the disease effectively.
NDRG1 Gene CMT4D Genetic Test at DNA Labs UAE
DNA Labs UAE offers a specialized genetic test for the NDRG1 gene mutation, which is responsible for CMT4D. This test is a vital tool for confirming the diagnosis of CMT4D, especially in individuals who present with the typical symptoms of the disease. The test involves a simple blood draw or saliva sample from which DNA is extracted and analyzed for the presence of mutations in the NDRG1 gene.
The cost of the NDRG1 Gene CMT4D Genetic Test at DNA Labs UAE is 4400 AED. While the cost may seem significant, the value of a definitive diagnosis cannot be overstated. A confirmed diagnosis can help in the management of the condition, including physical therapy, occupational therapy, and other interventions that can improve quality of life.
For more information on the NDRG1 Gene CMT4D Genetic Test and to schedule your test, please visit DNA Labs UAE.
Conclusion
Charcot-Marie-Tooth disease type 4D is a challenging condition, but understanding its symptoms and obtaining an early and accurate diagnosis can significantly impact the management and progression of the disease. DNA Labs UAE is committed to providing accurate and timely genetic testing for the NDRG1 gene, helping individuals and families navigate the complexities of CMT4D. With the right support and interventions, those affected by CMT4D can lead fulfilling lives.
