Symptoms and Testing information for PMP22 Gene Dejerine-Sottas Disease Genetic Test

Symptoms and Testing information for PMP22 Gene Dejerine-Sottas Disease Genetic Test

Symptoms of PMP22 Gene Dejerine-Sottas Disease Genetic Test

Dejerine-Sottas Disease, also known as hereditary motor and sensory neuropathy type III, is a rare genetic disorder that affects the peripheral nervous system. It is caused by mutations in the PMP22 gene, among others, and leads to severe neurological problems. Understanding the symptoms of this condition is crucial for early diagnosis and management. DNA Labs UAE offers a comprehensive genetic test for Dejerine-Sottas Disease, which can help in identifying the mutation in the PMP22 gene. The cost of the test is 4400 AED. For more information, please visit DNA Labs UAE.

Early Symptoms

The symptoms of Dejerine-Sottas Disease often appear in infancy or early childhood, but they can also develop in late childhood or early adolescence. Early symptoms include:

  • Delayed motor milestones such as walking or crawling
  • Frequent falls due to muscle weakness
  • Difficulty with balance and coordination
  • Decreased muscle tone
  • Foot deformities such as high arches or flat feet

Progressive Symptoms

As the disease progresses, symptoms become more severe and can include:

  • Severe muscle weakness and atrophy, particularly in the lower limbs
  • Loss of sensation in the arms and legs, leading to an inability to feel heat, cold, or pain
  • Difficulty with fine motor skills such as writing or buttoning clothes
  • Chronic pain in the limbs
  • Curvature of the spine (scoliosis)

Advanced Symptoms

In the advanced stages of Dejerine-Sottas Disease, individuals may experience:

  • Respiratory difficulties due to weakened chest muscles
  • Severe disability requiring the use of mobility aids
  • Increased susceptibility to injuries due to lack of sensation

Importance of Genetic Testing

Genetic testing for the PMP22 gene mutation is vital for the diagnosis of Dejerine-Sottas Disease. Early diagnosis through genetic testing can provide several benefits:

  • It helps in understanding the course of the disease and planning for its management.
  • It allows for genetic counseling for affected families, providing information about the risk of passing the condition to future generations.
  • It enables healthcare professionals to tailor treatments and interventions that can improve the quality of life for those affected.

DNA Labs UAE is committed to providing accurate and comprehensive genetic testing for Dejerine-Sottas Disease at a cost of 4400 AED. Our state-of-the-art facilities and experienced team ensure reliable results for patients and their families. For more details on the PMP22 Gene Dejerine-Sottas Disease Genetic Test, visit our website at https://dnalabsuae.com.

Conclusion

Dejerine-Sottas Disease is a challenging condition, but early diagnosis and management can significantly improve the quality of life for those affected. Understanding the symptoms and the importance of genetic testing for the PMP22 gene mutation is the first step towards effective treatment. DNA Labs UAE offers a comprehensive genetic test to aid in the diagnosis and management of this rare condition. If you or your family members are experiencing symptoms related to Dejerine-Sottas Disease, consider reaching out to DNA Labs UAE for support and guidance.

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