Myoclonic epilepsy myopathy sensory ataxia
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Myoclonic epilepsy myopathy sensory ataxia, commonly called MEMSA, is part of a group of conditions called the POLG-related disorders. The conditions in this group feature a range of similar signs and symptoms involving muscle-, nerve-, and brain-related functions. The signs and symptoms of MEMSA typically appear during young adulthood. This condition had previously been known as spinocerebellar ataxia with epilepsy (SCAE).
Beskrivning
Myoclonic epilepsy myopathy sensory ataxia, commonly called MEMSA, is part of a group of conditions called the POLG-related disorders. The conditions in this group feature a range of similar signs and symptoms involving muscle-, nerve-, and brain-related functions. The signs and symptoms of MEMSA typically appear during young adulthood. This condition had previously been known as spinocerebellar ataxia with epilepsy (SCAE).
The first symptom of MEMSA is usually cerebellar ataxia, which refers to problems with coordination and balance due to defects in the part of the brain that is involved in coordinating movement (cerebellum). Recurrent seizures (epilepsy) usually develop later, often in combination with uncontrollable muscle jerks (myoclonus). The seizures usually begin in the right arm and spread to become generalized throughout the body. Additionally, affected individuals may have severe brain dysfunction (encephalopathy) or muscle weakness (myopathy). The myopathy can affect muscles close to the center of the body (proximal), such as the muscles of the hips, thighs, upper arms, or neck, or muscles farther away from the center of the body (distal), such as the muscles of the hands or feet. The myopathy may be especially noticeable during exercise (exercise intolerance).
Inheritance patterns
The source lists the following possible inheritance patterns: Autosomal recessive. More than one pattern can apply in different cases.
Related genes
Other names
MEMSA
SCAE
Spinocerebellar ataxia with epilepsy
Related patient information and medicines
Patient information leaflet
Typer av anfall
A seizure is a short episode of symptoms caused by a burst of abnormal electrical activity in the brain. Typically, a seizure lasts from a few seconds to a few minutes. Even though there... They are more common in children than in adults. Myoclonic seizures involve a sudden contraction of the muscles, which causes jerking movements. These can.
Patient information leaflet
Perifer neuropati
Peripheral neuropathy means damage to one or more of your peripheral nerves. Two of the most common of these are Charcot-Marie-Tooth syndrome and Friedreich's ataxia. Idiopathic peripheral neuropathy In a few people, no specific cause is found for their peripheral neuropathy. These include medicines that are commonly used to treat epilepsi.
Patient information leaflet
Temporallobsskador
The temporal lobe of the brain is involved in understanding and remembering what we see (vision), understanding speech and language, and understanding emotions. Temporal lobe epilepsy Seizures which begin in the temporal lobe can cause a wide variety of symptoms. The seizur... Temporal lobe epilepsi can be treated with medicines that are used for.
Patient information leaflet
Planerar att bli gravid
Women on regular medication, or who have a long-term medical condition, may need to seek medical advice to discuss any changes which may need to be made. This is ideally done before pregnancy. There is a summary checklist at the end of the leaflet. See the separate leaflet called Diabetes and pregnancy. Epilepsi Many treatments for epilepsi are.
Patient information leaflet
Epilepsi
About 1 in 30 people in the UK develop epilepsy at some stage in their lives. However, epilepsy can begin at any age. What is epilepsy. Epilepsy is a long-lasting brain condition that causes people to have repeated seizures. It can cause different symptoms, from someone becoming unconscious and shaking, to someone behaving unusually for a short.
Patient information leaflet
Kan jag ta Amlodipin och Tramadol tillsammans?
It is a good idea to monitor your b... Important precautions Epilepsy or history of seizures Tramadol can increase the risk of having a seizure, especially if you have a history of epilepsy or are taking other medicines that lower the seizure threshold. Asthma or breathing problems Tramadol can cause dangerous breathing difficulties (respiratory.
Vidare läsning och referenser
- Myoclonic epilepsy myopathy sensory ataxia; MedlinePlus, National Library of Medicine.
- Cohen BH, Chinnery PF, Copeland WC. POLG-Related Disorders. 2010 Mar 16 [updated 2024 Feb 29]. In: Adam MP, Bick S, Mirzaa GM, Wallace SE, Amemiya A, editors. GeneReviews(R) [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2026. Available from http://www.ncbi.nlm.nih.gov/books/NBK26471/
- Milone M, Massie R. Polymerase gamma 1 mutations: clinical correlations. Neurologist. 2010 Mar;16(2):84-91. doi: 10.1097/NRL.0b013e3181c78a89.
- Moraes CT, Shanske S, Tritschler HJ, Aprille JR, Andreetta F, Bonilla E, Schon EA, DiMauro S. mtDNA depletion with variable tissue expression: a novel genetic abnormality in mitochondrial diseases. Am J Hum Genet. 1991 Mar;48(3):492-501.
- Rocher C, Taanman JW, Pierron D, Faustin B, Benard G, Rossignol R, Malgat M, Pedespan L, Letellier T. Influence of mitochondrial DNA level on cellular energy metabolism: implications for mitochondrial diseases. J Bioenerg Biomembr. 2008 Apr;40(2):59-67. doi: 10.1007/s10863-008-9130-5. Epub 2008 Apr 16.
- Stumpf JD, Copeland WC. Mitochondrial DNA replication and disease: insights from DNA polymerase gamma mutations. Cell Mol Life Sci. 2011 Jan;68(2):219-33. doi: 10.1007/s00018-010-0530-4. Epub 2010 Oct 8.
Artikelhistorik
Artikeln finns också på Engelska, Tyska, Spanska, Franska, Italienska, Portugisiska, Hindi, Hebreiska, Arabiska, och Svenska.
18 aug 2020 | Senaste versionen
1 Jun 2011 | Ursprungligen publicerad
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