Congenital Muscular Distrophy (CMD) caused by deficit in collagen VI is a very severe illness,. This type of CMD is one of the rare diseases, and at the moment does not have cure.
CMD caused by dèficit in collagen VI is a degenerative illness that affects the muscles. It is caused by a mutation in some of the genes involved in the syntesisof collagen VI (COL6A1, COL6A2, COL6A3).
This illness is present from birth, the main symptoms are lack off strenght in the muscles, fingers and toes hyperlaxity and contractures that tend to improve at the beginning and then can progress again. The tendons are shorter too, specially the Achilles tendon, muscular weakness and spinal rigidity.
Most of the patients affected acquire the ability to walk until the end of the first decade. Accompanying the loss of ability to walk around this time a nocturnal respiratory insuficiency appears and emerges progressively, and they will need to use a night ventilator, if not the potential risk of death increases.
There are 2 different kind of illness depending on the evolution:
• The DMC Ullrich, is clinically more severe.
• The DMC Bethlem, is clinically less severe.
We are currently seeing intermediate forms between them.