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Myoclonus is a brief, involuntary, irregular (lacking rhythm) twitching of a muscle, a joint, or a group of muscles, different from clonus, which is rhythmic or regular. Myoclonus (myo-"muscle", clonus "spasm") describes a medical sign and, generally, is not a diagnosis of a disease.
Myoclonus is usually classified physiologically to optimize treatment. Myoclonus is a precursor effect to myoclonus dystonia and most commonly begins in childhood or adolescence. [4] [5] Myoclonus is classified as cortical, subcortical, peripheral or spinal. Cortical myoclonus is the most common of these four and affects the upper limbs and face.
Opsoclonus myoclonus syndrome (OMS), also known as opsoclonus-myoclonus-ataxia (OMA), is a rare neurological disorder of unknown cause which appears to be the result of an autoimmune process involving the nervous system. It is an extremely rare condition, affecting as few as 1 in 10,000,000 people per year.
Gaucher's disease can be diagnosed through enzyme testing as it is a metabolic disease. [4] Lafora's disease can be diagnosed using skin biopsies. [4] While Action myoclonus renal failure (AMRF) syndrome can only be diagnosed using genetic test. [4] Using EEG's as a form of diagnosis can prove difficult as patients differ in their neurophysiology.
It is a disease that presents Myoclonus as a sequela of hypoxic disorders in the brain due to asphyxiation and cardiopulmonary arrest. [ 2 ] [ 3 ] It is exacerbated by mental and physical anxiety such as intention, intentional movement, and tension.
Lafora disease is also known as Lafora progressive myoclonus epilepsy, which is an autosomal recessive inherited disorder involving recurrent seizures and degradation of mental capabilities. [8] Lafora disease usually occurs in late childhood and usually leads to death around 10 years after first signs of the disease. [8]
Unverricht–Lundborg disease was first known as one of two different diseases, depending on the location of the individual who had it: Baltic myoclonus or Mediterranean myoclonus. [7] The reason for the different names was partly regional but also because the prognosis of the disease was different for individuals with each due to the way that ...
Lafora disease is a rare, adult-onset and autosomal recessive [4] genetic disorder which results in myoclonus epilepsy and usually results in death several years after the onset of symptoms. The disease is characterized by the accumulation of inclusion bodies, known as Lafora bodies, within the cytoplasm of the cells in the heart, liver, muscle ...