Autosomal Recessive Disease and Sex-Linked Disease

Huntington’s disease is an autosomal dominant disease, which develops due to a defective gene in a person transmitted from one of the parents. Symptoms include involuntary movements and body twitches, decreased cognitive abilities, and psychiatric disorders. Diagnosis is based on a genetic test that shows the presence of a defective gene. Drugs can only reduce some symptoms but not cure the patient. The primary preventive measure includes parents having a disease history adopting a child or using alternative fertilization methods.

Cystic fibrosis is an autosomal recessive disease provoked by a mutation of the CFTR gene that a person receives from both parents. The condition is characterized by a violation of the mucus consistency, which becomes thicker and negatively affects the work of the body organs. Symptoms also include frequent pulmonary infections, difficulty breathing, salty-tasted skin, infertility, and other signs. Diagnosis is possible using a DNA test, sweat test, or blood test. Drugs, physical therapy, and airway clearance techniques do not provide treatment but can mitigate symptoms. Therefore, prevention is only possible through careful family planning using genetic tests.

Duchenne muscular dystrophy is a condition provoked by a violation of the gene that produces protein dystrophin, manifested in boys. Women are carriers of the gene but may not be aware of it. Symptoms include weakness and inflexibility of muscles that worsen over time, scoliosis, headaches, difficulty concentrating, and several other signs. Tests such as blood tests, muscle biopsies, and genetic tests can be performed for diagnosis. Moreover, some medications – steroids, eteplirsen, or deflazacort can relieve symptoms. However, there are no treatment and preventive measures for the disease.

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