Short Description

Collagen VI-related myopathy is a group of disorders that affect skeletal muscles and connective tissues. Most affected individuals have muscle weakness and joint contractures which restrict movement of affected joints. Bethlem myopathy is the mildest form of Collagen VI-related myopathy and Ullrich congenital muscular dystrophy is the most severe form. Mutations in the COL6A1, COL6A2, and COL6A3 genes result in a decrease or lack of type VI collagen or the production of abnormal type VI collagen. In general, lower amounts of type VI collagen lead to more severe signs and symptoms that begin earlier in life. Myofibrillar myopathy is part of a group of muscular dystrophies that affect muscle function and cause weakness. It primarily affects skeletal muscles and in some cases cardiac muscles too are affected. _x000D_ Mutations in several genes can cause myofibrillar myopathy. These genes code for proteins that play important role in muscle fibers. Mutations in the DES, MYOT, and LDB3 genes are responsible for the majority of cases of myofibrillar myopathy with known genetic cause. Other associated genes are BAG3, CRYAB, and FLNC.

PreTest Information

Duly filled Whole Exome Sequencing Consent Form (Form 37) is mandatory.

Detail Description

Nx GEN SEQUENCING: BETHLEM MYOPATHY MYOFIBRILLAR MYOPATHY & ULLRICH MUSCULAR DYSTROPHY Test cost INR:23400

DNA Labs India offers Nx GEN sequencing for the diagnosis of Bethlem Myopathy, Myofibrillar Myopathy, and Ullrich Muscular Dystrophy. This test can help identify the genetic mutations responsible for these disorders, allowing for early diagnosis and treatment.

Symptoms of Bethlem Myopathy, Myofibrillar Myopathy, and Ullrich Muscular Dystrophy

Bethlem Myopathy is a rare genetic disorder that affects the muscles and joints. Symptoms typically start in early childhood and include muscle weakness, contractures (permanent tightening of the muscles), and joint stiffness.

Myofibrillar Myopathy is a group of genetic disorders that cause muscle weakness and wasting. Symptoms can vary but typically include muscle weakness, difficulty walking, and problems with balance and coordination.

Ullrich Muscular Dystrophy is a rare genetic disorder that affects the muscles and joints. Symptoms typically start in early childhood and include muscle weakness, contractures, and joint stiffness. The disorder can also cause respiratory problems and scoliosis (curvature of the spine).

Diagnosis of Bethlem Myopathy, Myofibrillar Myopathy, and Ullrich Muscular Dystrophy

The diagnosis of these disorders typically involves a combination of physical examination, muscle biopsy, and genetic testing. Nx GEN sequencing can identify genetic mutations responsible for these disorders, allowing for early diagnosis and treatment.

Test Cost

The cost of Nx GEN sequencing for Bethlem Myopathy, Myofibrillar Myopathy, and Ullrich Muscular Dystrophy is INR 23400.

Conclusion

If you or a loved one are experiencing symptoms of Bethlem Myopathy, Myofibrillar Myopathy, or Ullrich Muscular Dystrophy, it is important to seek medical attention. DNA Labs India offers Nx GEN sequencing to help diagnose these rare genetic disorders and provide early treatment options. Contact us today to schedule your test.

Collagen VI-related myopathy is a group of disorders that affect skeletal muscles and connective tissues. Most affected individuals have muscle weakness and joint contractures which restrict movement of affected joints. Bethlem myopathy is the mildest form of Collagen VI-related myopathy and Ullrich congenital muscular dystrophy is the most severe form. Mutations in the COL6A1, COL6A2, and COL6A3 genes result in a decrease or lack of type VI collagen or the production of abnormal type VI collagen. In general, lower amounts of type VI collagen lead to more severe signs and symptoms that begin earlier in life. Myofibrillar myopathy is part of a group of muscular dystrophies that affect muscle function and cause weakness. It primarily affects skeletal muscles and in some cases cardiac muscles too are affected. Mutations in several genes can cause myofibrillar myopathy. These genes code for proteins that play important role in muscle fibers. Mutations in the DES, MYOT, and LDB3 genes are responsible for the majority of cases of myofibrillar myopathy with known genetic cause. Other associated genes are BAG3, CRYAB, and FLNC.