Myoclonic epilepsy with ragged-red fibers
अंतिम अद्यतन 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.
विवरण
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
Patient information leaflet
दौरे के प्रकार
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मिर्गी
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.
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क्या मैं फाइबर सप्लीमेंट्स और राइबेल्सस को एक साथ ले सकता हूँ?
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अधिक पठन और संदर्भ
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