Afecciones

To learn more about your specific rare condition, visit the appropriate conditions page linked below:

Distrofia muscular de Duchenne	La distrofia muscular de Duchenne es un trastorno genético caracterizado por la pérdida progresiva de los músculos. Es una afección multisistémica que afecta muchas partes del cuerpo; y tiene como consecuencia un deterioro de los músculos del esqueleto, el corazón y los pulmones. La enfermedad de Duchenne se debe a un cambio en el gen de la distrofina. Sin la distrofina, los músculos no pueden funcionar ni repararse correctamente.
Endocrine Conditions	Endocrine conditions are a group of disorders that affect the functioning of the endocrine system, which is a network of glands that produce and release hormones into the bloodstream. Hormones are chemical messengers that regulate various bodily functions and help maintain overall health and well-being. When there is a disruption in the production, release, or activity of hormones, it can lead to endocrine conditions. Click below for more information on specific conditions: Chronic granulomatous disease Hipercolesterolemia familiar Long-chain fatty acid oxidation disorders Lipodistrofia Osteopetrosis Tumor-induced osteomalacia X-linked hypophosphatemia
Metabolic Conditions	Metabolic conditions, also known as metabolic disorders or metabolic diseases, refer to a group of health disorders that arise due to abnormalities in the body's metabolism. Metabolism is a complex set of chemical reactions that occur within cells to convert food into energy and facilitate various physiological processes in the body. When these metabolic processes are disrupted, it can lead to the development of various conditions. Click below for more information on specific conditions: Porfiria hepática aguda Cistinosis Amiloidosis por transtiretina hereditaria con polineuropatía Tirosinemia hereditaria de tipo 1 Fenilcetonuria Trastornos del ciclo de la urea Enfermedad de wilson
Nutrition Disorders	Nutrition disorders refer to conditions that arise from imbalances or deficiencies in a person's intake of nutrients. These disorders can affect people of all age groups and can have significant impacts on their overall health and well-being. Síndrome de intestino corto
Afecciones oftalmológicas	Ophthalmic conditions refer to a variety of eye problems and disorders that affect a person's vision or the overall health of their eyes. These conditions can range from minor irritations to more serious diseases that can lead to vision loss or even blindness if left untreated. Click below for more information on specific conditions: Biallelic RPE65 mutation-associated retinal dystrophy Queratitis neurotrófica Trastorno de sueño y vigilia irregulares Smith-Magenis syndrome
Atrofia muscular espinal	La atrofia muscular espinal (AME) es un trastorno que degrada el sistema nervioso central. La causa es una mutación de la motoneurona sobreviviente en el cromosoma 5. La mutación hace que los músculos no reciban las señales de la célula nerviosa ubicada en la médula espinal que controla el movimiento muscular voluntario. En el transcurso del tiempo, el cuerpo se debilita continuamente, lo que puede tener como resultado una disminución en las actividades diarias, como respirar, tragar, comer y caminar.