Dyskeratosis congenita is a rare genetic disorder causing bone marrow failure, often with skin abnormalities. Diagnosis is confirmed by genetic testing, and treatment ranges from medication to bone marrow transplantation. The condition is rare, with no link to race or ethnicity, and over 75% of cases are male. Symptoms include skin conditions, bone marrow failure, […]
Pachyonychia congenita is a genetic skin disorder that affects keratin production, causing thick, misshapen nails, blisters, and calluses. There is no cure, but gene silencing is being researched. The condition can be inherited or occur spontaneously, and symptoms vary in severity. Treatment involves managing outbreaks and regular nail and skin care. Genetic counseling and assisted […]
Paramyotonia congenita is a rare neuromuscular disorder that causes muscles to be slow to relax after contraction, with symptoms worsened by exercise and cold temperatures. It is caused by a mutation in the SCN4A gene and can be managed by avoiding triggers or medication. Paramyotonia congenita, also called Eulenburg’s disease or Eulenberg’s paramyotonia congenita, is […]
Myotonia congenita causes abnormal muscle tension and relaxation, with symptoms including pain, cramps, and mobility issues. It is caused by a defect in the CLCN1 gene, which affects electrical impulses in muscles. There are two forms, Thomsen’s disease and Becker disease, with different inheritance patterns. Treatment may include medication and physical therapy. Myotonia congenita is […]
