Hyperkalemic Periodic Paralysis What Is Hyperkalemic Periodic Paralysis? Hyperkalemic periodic paralysis (hyperKPP or HYPP) causes sudden episodes (attacks) of muscle weakness or temporary paralysis. It happens when potassium levels in your blood get too high. Hyperkalemia means your blood has more potassium than normal. Potassium is an important mineral that helps muscles contract and work properly. During an attack, the extra potassium can get in the way of muscle control. Attacks for this rare genetic disorder often last 15 minutes to an hour. But sometimes, they may be longer. The condition can start in childhood, adolescence or early adulthood. Many people notice their first episode before age 20. Treatment may not stop every episode, but it can make attacks happen less often. Symptoms HyperKPP mostly affects the muscles in your arms and legs. The symptoms come and go, which means they shouldn’t last forever. Common symptoms include: Muscle weakness or paralysis Muscle stiffness P...
CLN4 disease Overview CLN4 disease, a rare form of Batten disease (Kufs type), is an adult-onset neurodegenerative disorder caused by mutations in the DNAJC5 gene. It leads to the toxic buildup of cellular waste in the brain, resulting in seizures, dementia, and movement disorders. It is unique as the only dominantly inherited NCL CLN4 disease (Ceroid Lipofuscinosis, Neuronal, Type 4) is a rare, progressive genetic disorder that belongs to a group of diseases collectively known as Batten disease. Unlike most other forms of Batten disease, which typically affect children, CLN4 disease is an adult-onset condition and is uniquely the only form inherited in an autosomal dominant manner. Symptoms 1. Movement and Motor Symptoms Myoclonic epilepsy: Uncontrollable, sudden muscle jerks or spasms.Ataxia: Problems with balance and poor coordination of voluntary muscles. Tremors and motor tics: Shakiness and involuntary muscle movements. Dysarthria: Difficulty sp...