Myoclonic epilepsy with ragged-red fibers
Zuletzt aktualisiert 20 Apr 2021
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Myoclonic epilepsy with ragged-red fibers (MERRF) is a disorder that affects many parts of the body, particularly the muscles and nervous system. In most cases, the signs and symptoms of this disorder appear during childhood or adolescence. The features of MERRF vary widely among affected individuals, even among members of the same family.
Beschreibung
Myoclonic epilepsy with ragged-red fibers (MERRF) is a disorder that affects many parts of the body, particularly the muscles and nervous system. In most cases, the signs and symptoms of this disorder appear during childhood or adolescence. The features of MERRF vary widely among affected individuals, even among members of the same family.
MERRF is characterised by muscle twitches (myoclonus), weakness (myopathy), and progressive stiffness (spasticity). When the muscle cells of affected individuals are stained and viewed under a microscope, these cells usually appear abnormal. These abnormal muscle cells are called ragged-red fibers. Other features of MERRF include recurrent seizures (epilepsy), difficulty coordinating movements (ataxia), a loss of sensation in the extremities (peripheral neuropathy), and slow deterioration of intellectual function (dementia). People with this condition may also develop hearing loss or optic atrophy, which is the degeneration (atrophy) of nerve cells that carry visual information from the eyes to the brain. Affected individuals sometimes have short stature and a form of heart disease known as cardiomyopathy. Less commonly, people with MERRF develop fatty tumours, called lipomas, just under the surface of the skin.
Inheritance patterns
The source lists the following possible inheritance patterns: mitochondrial. More than one pattern can apply in different cases.
Related genes
Other names
Fukuhara disease
MERRF
MERRF syndrome
Myoclonic epilepsy associated with ragged-red fibers
Myoencephalopathy ragged-red fiber disease
Related patient information and medicines
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Arten von Anfällen
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Epilepsie
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Weiterführende Lektüre und Referenzen
- Myoclonic epilepsy with ragged-red fibers; MedlinePlus, National Library of Medicine.
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- Teive HA, Munhoz RP, Muzzio JA, Scola RH, Kay CK, Raskin S, Werneck LC, Bruhn H. Cerebellar ataxia, myoclonus, cervical lipomas, and MERRF syndrome. Case report. Mov Disord. 2008 Jun 15;23(8):1191-2. doi: 10.1002/mds.21990. No abstract available.
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Artikel auch verfügbar in Englisch, Deutsch, Spanisch, Französisch, Italienisch, Portugiesisch, Hindi, Hebräisch, Arabisch, und Schwedisch.
20 Apr 2021 | Neueste Version
1 May 2014 | Ursprünglich veröffentlicht
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