Conditions

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

Duchenne Muscular Dystrophy	Duchenne muscular dystrophy is a genetic disorder characterized by the progressive loss of muscle. It is a multisystemic condition, affecting many parts of the body, which results in deterioration of the skeletal, heart, and lung muscles. Duchenne is caused by a change in the dystrophin gene. Without dystrophin, muscles are not able to function or repair themselves properly.
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 Familial hypercholesterolemia Long-chain fatty acid oxidation disorders Lipodystrophy 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: Acute Hepatic Porphyria Cystinosis Hereditary Transthyretin Amyloidosis (hATTR) with Polyneuropathy Hereditary Tyrosinemia Type 1 Phenylketonuria Urea cycle disorders Wilson disease
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. Short bowel syndrome
Ophthalmic Conditions	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 Neurotrophic keratitis Non-24-hour sleep-wake disorder Smith-Magenis syndrome
Spinal Muscular Atrophy	Spinal muscular atrophy (SMA) is a disorder that degrades the central nervous system, caused by a mutation in the survival motor neuron (SMN) on the 5th chromosome. The mutation causes muscles to not receive signals from the nerve cell located in the spinal cord that controls voluntary muscle movement. This ultimately leads to your body continuously becoming weaker, which may result in a decrease in daily activities such as breathing, swallowing, eating, and walking.