LMNA-related_congenital_muscular_dystrophy
LMNA-related congenital muscular dystrophy
Medical condition
Lamin A/C congenital muscular dystrophy (CMD) (L-CMD, congenital muscular dystrophy associated to the LMNA gene or Emery-Dreifuss muscular dystrophy II) is a disease that it is included in laminopathies. Laminopathies are caused, among other mutations, to mutations in LMNA, a gene that synthesizes lamins A and C.
Currently there are approximately 200 cases worldwide.
This illness implies, like other muscular dystrophies, muscle weakness, motor difficulties and lack of control in the movement of the head, respiratory failure and cardiac abnormalities and symptoms are usually evident before the age of 2.
It can be an autosomal dominant inherited disease that affects both male and female but most known cases are de-novo mutations (spontaneous mutation) and are therefore not inherited. It is dominantly inherited because the abnormal gene would dominate beyond the normal one and it would transmit the disease. But it can also be recessive inheritance, which means that parents would carry the disease but it would not appear.Therefore, although parents have normal genes, children who are affected by mutations will have kids that would suffer the same disease as it is transmitted through heredity. This dystrophy was discovered thanks to geneticist, Gisèle Bonne, who identified the first mutation of the LMNA gene in 1999.