Motor neuron diseases affect voluntary muscles through motor neuron degeneration. Includes ALS, PBP, PMA, PLS, SMA, and other rare variants. Can affect both children and adults. Most cases are sporadic, some have genetic causes
Rare autosomal dominant leukodystrophy affecting brain myelin. Infantile form begins in first two years, usually fatal before age seven. Juvenile form appears between 2-13 years, causing vomiting and coordination problems. Adult-onset forms less common, sometimes mimicking Parkinson's or MS
CJD is a fatal neurodegenerative disease caused by abnormal prion protein folding. Early symptoms include memory problems, behavioral changes, and poor coordination. Later symptoms include dementia, involuntary movements, blindness, and coma. About 70% of people die within a year of diagnosis
GPA is a rare autoimmune disease causing blood vessel inflammation. Most commonly affects upper respiratory tract, lungs and kidneys. Typical symptoms include nosebleeds, stuffy nose and eye inflammation. Can cause serious organ damage, especially kidney failure
Echinococcosis is caused by tapeworms, with cystic and alveolar forms being main types. Disease often starts asymptomatic and can last years. Symptoms depend on cyst location and size. Alveolar disease typically affects liver, causing chest pain and shortness of breath
GSD affects glycogen metabolism in muscles and/or liver cells. Genetic GSD results from defective enzymes or transport proteins. Environmental GSD occurs in livestock from castanospermine intoxication. Not all carbohydrate metabolism disorders are classified as GSDs