About CMD (KMD)
CMD (Congenital Muscular Dystrophy), CMD in Turkish, is a rare disease group that expresses congenital muscular dystrophy disease, congenital muscle weakness. Today, they are risky and progressive diseases that have no cure, significantly limit life. This group of diseases is caused by genetic mutations originating from different genes. These diseases cause neurological and physical problems of different severity. Different genes and different mutations make the disease individual. For example, while some children never gain the ability to walk, some lose this ability in early childhood, some in adolescence, and some in older age.
Congenital Muscular Dystrophy group diseases are serious diseases that limit a person’s life.
The genes and diseases that cause Congenital Muscular Dystrophy can be listed as follows;
- Collagen VI (Ullrich KMD, Intermediate COL6, Bethlem Myopathy)
- Collagen XII Related Disorders
- alpha-Dystroglycanopathy (Walker-Warburg, Fukuyama, Muscle-Eye-Brain, LGMD2I, LGMD2K, LGMD2M, LGMD2N, LGMD2O)
- LAMA2 (Merosine Deficiency, Merosine Negative)
- SELENON / SEPN1 (Rigid Spine MD, Multi-Minicore Disease)
- LMNA (L-CMD, Laminopathy, Emery-Dreifuss MD)
- Other (Alpha Integrin, Choline Kinase, SYNE1, TCAP, Titan, RYR1, KMD undiagnosed)