Plain-language guides to rare conditions, built only from published research. Every statement shows how strong the evidence is and links to its source.
EDS is a group of inherited conditions where the body's connective tissue, the material that gives skin, joints, and blood vessels their strength and stretch, is built differently. This can make joints very loose, skin stretchy or fragile, and in some forms can make blood vessels and organs prone to tearing.
Amyotrophic lateral sclerosis is a progressive neurodegenerative disease of the upper and lower motor neurons, producing combined signs of muscle weakness and wasting with fasciculations (lower motor neuron) and spasticity with brisk reflexes (upper motor neuron). Onset may be limb or bulbar (dysarthria, dysphagia); respiratory failure is the usual cause of death, while sensation and, for most patients, cognition are relatively spared, with a frontotemporal dementia overlap in a minority. About 90% of cases are sporadic and roughly 10% familial, with C9orf72 and SOD1 the most common familial causes (TARDBP and FUS next); ALS is not generally inherited. There is no cure. Riluzole and edaravone offer modest benefit, tofersen is an antisense therapy specific to SOD1-related ALS, and multidisciplinary care including respiratory support (such as noninvasive ventilation), nutrition, and symptom management is central to extending survival and protecting quality of life. (confirmed from PMID:40283201, curation 2026-06-14)
Sickle cell disease is an inherited blood disorder caused by a single change in the HBB gene, which makes an abnormal form of haemoglobin. Red cells become stiff and sickle-shaped, leading to ongoing red-cell breakdown and episodes where blood flow is blocked. (confirmed from PMID:41538305, curation 2026-06-12)
Cystic fibrosis is an inherited condition caused by changes in the CFTR gene. CFTR normally moves salt and water across cell surfaces; when it fails, secretions become thick and sticky, mainly damaging the lungs and the pancreas. (confirmed from PMID:41898631, curation 2026-06-12)
Duchenne muscular dystrophy is a severe inherited muscle disease caused by mutations in the dystrophin (DMD) gene. Without working dystrophin, muscle is gradually damaged and replaced, causing progressive weakness from early childhood. (confirmed from PMID:41892993, curation 2026-06-12)
Myasthenia gravis is an autoimmune disorder of the junction between nerve and muscle, marked by muscle weakness that fluctuates, getting worse and better at different times. (confirmed from PMID:41524776, curation 2026-06-11)
Wilson disease is an inherited condition caused by changes in the ATP7B gene that disrupt how the body handles copper, so copper builds up and damages organs such as the liver and brain. (confirmed from PMID:42237336, curation 2026-06-12)
22q11.2 deletion syndrome is a contiguous-gene deletion disorder: in about 85-90% of cases a heterozygous ~3-Mb deletion on chromosome 22 removes a set of genes, including TBX1, the gene most responsible for the heart defects. Confirmed by chromosomal microarray. There is no treatment that corrects the deletion; care is supportive and organ-directed (heart surgery, calcium and vitamin D for low calcium, immune monitoring and sometimes thymus transplant, and developmental and psychiatric support). (confirmed from PMID:33707356, curation 2026-06-14)
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