The symptoms are progressive, and individuals with MEAK often need to use a wheelchair by their late teenage years because of movement difficulties and myoclonus. Many individuals with MEAK report temporary improvement of symptoms when they have a high fever. Seizures may become less frequent in adulthood, but other neurological complications, including myoclonus, ataxia and tremor, may worsen. Myoclonic epilepsy and ataxia due to potassium (K+) channel mutation (MEAK) is caused by a specific pathogenic variant ("mutation") in KCNC1 (c. 959G>A; p.Arg320His). KCNC1-related developmental and epileptic encephalopathy is associated with other pathogenic variants in KCNC1. In most individuals with KCNC1-related disorders, the pathogenic KCNC1 variant occurred spontaneously (de novo) and was not inherited from either parent. Epidemiology
PME accounts for less than 1% of epilepsy cases at specialist centres. The incidence and prevalence of PME is unknown, but there are considerable geography and ethnic variations amongst the specific genetic disorders. One cause, Unverricht Lundborg Disease, has an incidence of at least 1:20,000 in Finland. See also
Juvenile myoclonic epilepsy
Spinal muscular atrophy with progressive myoclonic epilepsy

References
External links

GeneReview/NCBI/NIH/UW entry on Progressive Myoclonus Epilepsy with Ataxia
Synovitis is the medical term for inflammation of the synovial membrane. This membrane lines joints that possess cavities, known as synovial joints. The condition is usually painful, particularly when the joint is moved. The  joint usually swells due to synovial fluid collection. Synovitis may occur in association with arthritis as well as lupus, gout, and other conditions. Synovitis is more commonly found in rheumatoid arthritis than in other forms of arthritis, and can thus serve as a distinguishing factor, although it is also present in many joints affected with osteoarthritis. In rheumatoid arthritis, the fibroblast-like synoviocytes, highly specialized mesenchymal cells found in the synovial membrane, play an active and prominent role in the synovitis. Long term occurrence of synovitis can result in degeneration of the joint. Signs and symptoms
Synovitis causes joint tenderness or pain, swelling and hard lumps, called nodules. When associated with rheumatoid arthritis, swelling is a better indicator than tenderness. Diagnosis
A rheumatologist will aim to diagnose the cause of the patient’s pain by first determining whether it is inside the joint itself, meaning true synovitis, or if it is actually caused by an inflammation of the tendons, referred to as tendonitis. Imaging, such as an MRI or musculoskeletal ultrasound is often required to make a firm diagnosis. Treatment
Synovitis symptoms can be treated with anti-inflammatory drugs such as NSAIDs. An injection of steroids may be done, directly into the affected joint. Specific treatment depends on the underlying cause of the synovitis. See also
Tenosynovitis
Transient synovitis
 Knee effusion (water on the knee)

References
External links

DermAtlas -1087962730