What are Genetic Bone and Muscle Diseases?

What are Genetic Bone and Muscle Diseases?

BONE DISEASES:
  • Osteoporosis (Bone Loss): This disease, which is more common in people over the age of 50, occurs due to decreased bone density. If its treatment is delayed, it causes other diseases such as bone fractures and herniated disc.
  • Rheumatoid Arthritis: It occurs due to inflammation of the muscles and joints in the body. This disease reduces bone density in the body.
  • Bone Rheumatism: Although the cause is not known exactly, it is the fact that the bone tissues cause pain in the patient due to the humidity in the environment.
  • Rickets: It is the weakness of the bones due to weakening. There are many factors that cause this disease. It is a disease that we often encounter during the growing period.
  • Glass bone disease (Osteogenesis imperfecta): Glass bone disease defined as osteogenesis imperfecta in the medical literature; It arises as a result of genetic factors and faulty or insufficient production of collagen, which is the basic substance of bone connective tissues.

As with many genetic diseases, there is no definitive treatment for glass bone disease. The degree and severity of the disease caused by the mutation in the relevant gene may vary from patient to patient. In general, the aim of treatment is to keep the symptoms and possible complications under control and to minimize them. At the same time, it is tried to ensure that patients continue their normal lives so that their quality of life does not decrease.

MUSCLE DISEASES:

Congenital Muscle Diseases:

  • Muscular dystrophy
  • BMD/DMD
  • Autosomal recessive muscular dystrophy
  • Autosomal dominant muscular dystrophy
Acquired Muscle Diseases:
  • Muscle and nerve junction diseases
  • Myasthenia gravis
  • Lambert eaton myasthenic syndrome

Unfortunately, genetic prevention of muscle diseases is not yet possible. It is not possible to treat and eliminate genetically occurring muscle diseases. However, the symptoms of the disease can be reduced or its progression can be slowed down.

There is a possibility of complete recovery by treating acquired muscle diseases.