Short Description

NGS genetic DNA test detecets for variant and mutation detection in DYNC1H1 gene for Spinal muscular atrophy, lower extremity-predominant type 1, autosomal dominant

PreTest Information

Clinical History of Patient who is going for DYNC1H1 Gene Spinal muscular atrophy, lower extremity-predominant type 1, autosomal dominant NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with DYNC1H1 Gene Spinal muscular atrophy, lower extremity-predominant type 1, autosomal dominant

Detail Description

DYNC1H1 Gene Spinal Muscular Atrophy: Lower Extremity-Predominant Type 1, Autosomal Dominant NGS Genetic DNA Test

Spinal muscular atrophy (SMA) is a genetic disorder that affects the muscles used for movement, including breathing and swallowing. It is caused by a mutation in the survival motor neuron 1 (SMN1) gene. However, there are other genes that can also cause SMA, including the DYNC1H1 gene.

The DYNC1H1 Gene

The DYNC1H1 gene provides instructions for making a protein called cytoplasmic dynein 1 heavy chain 1. This protein is involved in the movement of cellular structures called organelles along microtubules, which are like highways within cells. In particular, cytoplasmic dynein 1 heavy chain 1 plays a role in the movement of organelles called lysosomes and autophagosomes, which are involved in the breakdown and recycling of cellular components.

SMA, Lower Extremity-Predominant Type 1, Autosomal Dominant

SMA caused by mutations in the DYNC1H1 gene is a rare form of the disorder. It is known as lower extremity-predominant type 1, autosomal dominant SMA (SMALED1). This form of SMA is characterized by muscle weakness and wasting that primarily affects the muscles of the lower limbs, although it can also affect the upper limbs and respiratory muscles. Symptoms typically appear in childhood or adolescence and worsen over time.

Diagnosis

Diagnosis of SMALED1 is typically based on clinical features, family history, and genetic testing. NGS genetic DNA testing can identify mutations in the DYNC1H1 gene and confirm a diagnosis of SMALED1. The cost of this test in India is typically around INR 20,000.

Symptoms

The symptoms of SMALED1 can vary depending on the age of onset and severity of the condition. Common symptoms include:

• Difficulty walking and running
• Weakness in the legs and hips
• Foot drop
• Difficulty with balance and coordination
• Wasting of the leg muscles
• Difficulty with fine motor skills, such as writing or using utensils
• Respiratory problems, including difficulty breathing and swallowing

Treatment

Currently, there is no cure for SMALED1. Treatment is focused on managing symptoms and improving quality of life. This may include physical therapy, occupational therapy, assistive devices, and respiratory support. In some cases, surgery may be recommended to correct foot deformities or scoliosis.

Conclusion

SMALED1 is a rare form of spinal muscular atrophy caused by mutations in the DYNC1H1 gene. Diagnosis is typically based on clinical features and genetic testing. While there is no cure for SMALED1, treatment can help manage symptoms and improve quality of life. NGS genetic DNA testing can confirm a diagnosis of SMALED1 and costs around INR 20,000 in India.

If you or a loved one is experiencing symptoms of SMALED1, it is important to speak with a healthcare professional. Early diagnosis and treatment can help improve outcomes and quality of life.