Short Description

NGS genetic DNA test detecets for variant and mutation detection in DES gene for Neurogenic scapuloperoneal syndrome, Kaeser type

PreTest Information

Clinical History of Patient who is going for DES Gene Neurogenic scapuloperoneal syndrome, Kaeser type NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with DES Gene Neurogenic scapuloperoneal syndrome, Kaeser type

Detail Description

DES Gene Neurogenic Scapuloperoneal Syndrome, Kaeser Type: Symptoms, Diagnosis and NGS Genetic DNA Test Cost

DES gene neurogenic scapuloperoneal syndrome, Kaeser type, is a rare genetic disorder that affects the muscles and nerves. It is caused by mutations in the DES gene, which provides instructions for making a protein called desmin. Desmin is involved in maintaining the structure of muscle cells and helps to transmit signals between nerves and muscles. When the DES gene is mutated, desmin does not function properly, leading to muscle weakness and wasting, particularly in the shoulders and lower legs.

Symptoms

The symptoms of DES gene neurogenic scapuloperoneal syndrome, Kaeser type, typically begin in childhood or adolescence. They may include:

• Weakness and wasting of the shoulder muscles
• Weakness and wasting of the lower leg muscles
• Difficulty with running, jumping, and climbing stairs
• Foot drop
• Difficulty lifting the arms above the head
• Difficulty with fine motor skills, such as writing or buttoning clothes

In some cases, the symptoms may progress to involve the muscles of the trunk and hips.

Diagnosis

DES gene neurogenic scapuloperoneal syndrome, Kaeser type, is diagnosed through a combination of clinical examination, family history, and genetic testing. A doctor may perform a neurological exam to assess muscle strength and reflexes, as well as an electromyography (EMG) test to measure electrical activity in the muscles. Genetic testing can confirm the presence of a mutation in the DES gene.

NGS Genetic DNA Test Cost

The cost of NGS genetic DNA testing for DES gene neurogenic scapuloperoneal syndrome, Kaeser type, in India is typically around INR 20,000. This may vary depending on the specific testing provider and any additional services or consultations required.

Conclusion

DES gene neurogenic scapuloperoneal syndrome, Kaeser type, is a rare genetic disorder that can cause significant muscle weakness and wasting. Early diagnosis through clinical examination and genetic testing can help to ensure appropriate treatment and management of symptoms. If you or a loved one are experiencing symptoms of DES gene neurogenic scapuloperoneal syndrome, Kaeser type, consult with a qualified healthcare provider to discuss testing options and treatment options.

The DES gene is associated with a genetic condition known as "Neurogenic Scapuloperoneal Syndrome, Kaeser Type." This syndrome is a rare neuromuscular disorder characterized by muscle weakness and wasting, primarily affecting the muscles of the shoulders (scapulae) and lower legs (peroneal muscles). Mutations or variations in the DES gene can contribute to the development of this specific subtype of neurogenic scapuloperoneal syndrome.