This guide gives short, general-information notes on ten uncommon diseases. It is not a diagnostic tool and does not replace assessment by a qualified clinician.
Fibrodysplasia ossificans progressiva (FOP)
FOP is a very rare genetic disorder in which muscles, tendons and ligaments gradually turn into bone, restricting movement. Malformed big toes and painful flare-ups can be early clues. It is linked to an ACVR1 mutation and is diagnosed clinically and with genetic testing; biopsies are avoided because injury can trigger bone growth. There is no cure. Specialist care, flare-up management and injury prevention are important.
Progeria
Hutchinson-Gilford progeria syndrome causes rapid ageing beginning in early childhood. Features can include slow growth, hair loss, thin skin, stiff joints and early artery disease. It is usually caused by a spontaneous LMNA mutation. Genetic testing confirms diagnosis. Lonafarnib and careful cardiovascular, nutrition and rehabilitation care can improve outcomes.
Huntington's disease
Huntington's disease is an inherited brain disorder that affects movement, thinking and mood, often beginning between ages 30 and 50. It is caused by an expanded CAG repeat in the HTT gene and is confirmed with genetic testing. There is no cure, but medicines, physiotherapy, speech therapy and psychological support can help. Genetic counselling is important for affected families.
Amyotrophic lateral sclerosis (ALS)
ALS, also called motor neurone disease, progressively damages nerves controlling voluntary muscles. Weakness, twitching, cramps, speech or swallowing difficulty and breathing weakness can occur. Diagnosis uses clinical assessment, EMG, nerve studies and tests to exclude other causes. Riluzole, edaravone or selected gene-targeted treatment may help some people; multidisciplinary care is essential.
Creutzfeldt-Jakob disease (CJD)
CJD is a rare, rapidly progressive and fatal brain disorder caused by prions. Rapid dementia, poor coordination, muscle jerks and visual changes can occur. MRI, EEG and spinal-fluid testing support diagnosis. There is no cure, so care focuses on comfort, symptom relief and family support.
Guillain-Barré syndrome (GBS)
GBS is an autoimmune condition in which peripheral nerves are attacked, causing weakness that may rapidly progress to paralysis. It often follows an infection and is a medical emergency when breathing or swallowing is affected. Nerve studies and lumbar puncture help diagnosis. IVIG or plasma exchange, hospital monitoring and rehabilitation can support recovery.
Stevens-Johnson syndrome (SJS)
SJS is a rare, severe reaction of the skin and mucous membranes, commonly triggered by medicines; more extensive disease is called toxic epidermal necrolysis. Fever followed by painful rash, blistering, skin peeling or mouth and eye sores needs urgent emergency care. The suspected medicine must be stopped immediately and specialist burns-unit or intensive-care support may be needed.
Gaucher disease
Gaucher disease is an inherited enzyme disorder in which glucocerebroside builds up in the spleen, liver, bone marrow and sometimes brain. It can cause organ enlargement, anaemia, bruising, fatigue and bone problems. Enzyme testing and genetic testing confirm it. Enzyme replacement or substrate-reduction therapy can be effective for many people with type 1 disease.
Wilson's disease
Wilson's disease causes excess copper to build up in the liver, brain and eyes. Liver symptoms, tremor, stiffness, mood changes and Kayser-Fleischer rings can occur. Blood and urine copper tests, eye examination and genetic testing support diagnosis. Lifelong copper-removing or absorption-blocking treatment is needed; untreated disease can be fatal.
Epidermolysis bullosa (EB)
EB is a group of inherited conditions that make skin extremely fragile, causing blisters and wounds after minor friction. Diagnosis may use skin testing and genetic testing. There is no cure, but gentle wound care, non-stick dressings, infection prevention, pain relief and nutrition support are central. Severe forms can cause scarring and other serious complications.
Medical disclaimer: These notes are for general information only. Seek urgent medical care for rapidly progressing weakness, breathing difficulty, severe blistering rash, skin peeling or other acute symptoms.
