Tag: genetic disease
VLCAD deficiency: diagnostic test at birth, symptoms, treatments: Femme Actuelle Le MAG
VLCAD deficiency affects approximately 1 in 100,000 births, specifies the High Authority of Health. This pathology, of genetic origin, is potentially fatal. This is why the HAS wants screening for…
Di George syndrome: symptoms, diagnosis, treatments: Femme Actuelle Le MAG
According to the Génération 22 association, Di George syndrome affects 1 in 3,000 births (250 births in France) each year. It results in heart malformation, hypocalcemia, immunodeficiency, facial features, difficult…
Cystinosis: symptoms and treatments for this rare disease which progressively damages the organs: Femme Actuelle Le MAG
Hereditary and genetic, cystinosis results from a mutation in the cystinosin gene. Transmitted in an autosomal recessive manner, this disease requires that both parents carry the mutated gene. Treatments are…
Prader-Willi Syndrome: Symptoms, Causes & Therapy
Prader-Willi syndrome is a rare genetic disability. The main characteristics are muscle weakness, short stature and a lack of satiety, which often leads to obesity. Learn more about symptoms, causes,…