Diseases

Epilepsy juvenile absence

Epilepsy juvenile absence: A rare form of epilepsy that occurs around the time of puberty. Generalized tonic-clonic seizures occur when waking up and myoclonic seizures can also occur.

Epilepsy mental deterioration Finnish type

Epilepsy - mental deterioration, Finnish type: A rare disorder that occurs predominantly in people of Finnish origin and is characterized by the association of epilepsy with mental retardation.

Epilepsy occipital calcifications

Celiac disease - epilepsy - occipital calcifications: A rare syndrome characterized by celiac disease and epilepsy with brain calcifications

Epilepsy progressive myoclonic type 3

Epilepsy, progressive myoclonic 3: A genetic disorder involving the early onset of progressive myoclonic epilepsy. The infant develops normally for the first year or so of life and the seizures start usually before the age of two. Once the seizures start, neurological degeneration begins.

Epilepsy telangiectasia

Epilepsy - telangiectasia: A rare syndrome characterized by the association of epilepsy with telangiectasias on the conjunctiva of the eyelids.

Epilepsy with myoclono-astatic crisis

A form of childhood epilepsy which is associated with a sudden loss of muscle tone which often results in the sufferer falling over and possibly injuring themselves.

Epilepsy- benign occipital

In this epilepsy syndrome, seizures usually begin between the ages of 5 and 7, and originate in the occipital lobe. Seizure symptoms often include: * visual hallucinations * loss of vision, or forced deviation of the eyes * vomiting The hallucinations can take any form, but tend to be of brightly colored shapes of all sizes. Children may then complain of intense headache and may have extended periods of nausea and/or vomiting. BOE can sometimes be mistaken for migraines due to the visual changes and headaches associated with this type of epilepsy. In addition to hallucinations and visual disturbances children may also experience jerking movements on one side of their body.

Epilepsy- myoclonic progressive familial

Epilepsy, myoclonic progressive familial: A progressive central nervous system disorder characterized by involuntary muscle jerking that can involve just the limbs or the whole body.

Epilepsy- nocturnal- frontal lobe type

Epilepsy, nocturnal, frontal lobe type: An inherited form of epilepsy which originates from the frontal lobe and occurs predominantly at night. The seizures tend to occur in groups with as many as 8 occurring during a night. Often the condition is dismissed as nightmares or a psychiatric disorder. There are a number of genetic defects linked to the disorder resulting in a number of subtypes of the condition.

Epilepsy- partial- familial

Epilepsy, partial, familial: A form of epilepsy that tends to run in families and is linked to damage or abnormalities in a specific part of the brain. Often sensory disturbances accompany or precede the seizures.

Epilepsy- rolandic with paroxysmal exercise-induced dystonia and writer’s cramp

Epilepsy, rolandic with paroxysmal exercise-induced dystonia and writer's cramp: A rare disorder characterized by epilepsy, writer's cramp seizures and sudden exercise-induced dystonia. The dystonia could occur in the neck, face, trunk or limbs. The writer's cramp tended to start during childhood and continue into adolescence.

Epimerase deficiency

Galactose epimerase deficiency (medical condition): A condition which is characterised by a mutation in the UDP-galactose-4-epimerase gene.

Epiphyseal dysplasia- multiple- 1

Epiphyseal dysplasia, multiple, 1: Abnormalities in the ends of a number of bones resulting in the early onset of osteoarthrosis and joint pain. It is caused by a defect in the gene for COMP which is a cartilage protein.

Epiphyseal dysplasia- multiple- 2

Epiphyseal dysplasia, multiple, 2: Abnormalities in the ends of a number of bones resulting in the early onset of osteoarthrosis and joint pain. It is caused by a defect in the COL9A2 gene.

Epiphyseal dysplasia- multiple- 3

Epiphyseal dysplasia, multiple, 3: Abnormalities in the ends of a number of bones resulting in the early onset of osteoarthrosis and joint pain. The knees and ankles are usually the most affected joints. Mild weakness of muscles in the upper arms and legs was also sometimes present. It is believed to be caused by a defect in the COL9A3 gene.

Epiphyseal dysplasia- multiple- 5

Epiphyseal dysplasia, multiple, 5: Abnormalities in the ends of a number of bones resulting in the early onset of osteoarthrosis and joint pain. The hips and knees were the main joints involved. It is caused by defects in the gene for matrilin-3 (MATN3).

Episodic Ataxia syndrome

Episodic ataxia syndrome: A rare genetic disorder characterized by episodes of incoordination and unsteadiness. Stress and exertion may trigger the episodes.

Episodic ataxia with nystagmus

Episodic ataxia, nystagmus-associated (medical condition): A rare genetic disorder characterized by episodes of incoordination and unsteadiness as well as nystagmus (rapid, involuntary eye movements). Stress, exertion, alcohol and coffee may trigger the episodes which can last from hours to days. Type 2 is caused by a defect in the calcium ion gene on chromosome 19p13.

Epithelial-myoepithelial carcinoma

Epithelial-myoepithelial carcinoma: A rare slow-growing type of cancer that occurs in the salivary duct - usually the parotid gland. The cancer tends to occur in older patients. The cancer tends to reoccur readily and can metastasize.

Epithelioid sarcoma

Rare soft tissue tumor of young adults of unknown histogenesis, predominantly occurring in the distal extremities, with characteristic morphologic features such as epithelioid cytology and a granuloma-like pattern.

Epstein syndrome

A rare condition characterized by deafness, kidney inflammation, a reduced number of normal blood platelets needed for clotting and the presence of large blood platelets.

Erdheim disease

Erdheim disease I: A rare condition characterized by the cyst formation and degeneration of the middle layer of the aorta which can ultimately weaken that artery and may result in an aneurysm. A burst aortic aneurysm is a serious possible complication.

Erdheim-Chester syndrome

Erdheim-Chester syndrome: A very rare lipid storage disorder involving lipid deposits in various organs and hardening of the ends of long bones which affects the growth of the bone. The severity of the condition is variable