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This type of myoclonus often is caused by brain damage that results from a lack of oxygen and blood flow to the brain when breathing or heartbeat is temporarily stopped. Over-excitement of the sensorimotor cortex (cortical reflex myoclonus) or reticular formation (reticular reflex myoclonus) is also a cause of action myoclonus.
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.
Asterixis (more colloquially referred to as flapping tremor) is not actually a tremor, but rather a negative myoclonus.This movement disorder is characterized by an inability to maintain a position, which is demonstrated by jerking movements of the outstretched hands when bent upward at the wrist (which can be similar to a bird flapping its wings, hence the name "flapping tremor").
The causes of MERRF syndrome are difficult to determine, but because it is a mitochondrial disorder, it can be caused by the mutation of nuclear DNA or mitochondrial DNA. [3] The classification of this disease varies from patient to patient, since many individuals do not fall into one specific disease category.
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.
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.
Differential diagnosis includes other causes of seizures such as CNS infections (i.e. meningitis, encephalitis), metabolic disturbances (i.e. electrolyte imbalances), CNS trauma, drug use and/or withdrawal, genetic conditions (i.e. GEFS+), FIRES, shivering, febrile delirium, febrile myoclonus, breath holding spells, and convulsive syncope. [6]
The three main signs of hyperekplexia are generalized stiffness, excessive startle response beginning at birth, and nocturnal myoclonus. [5] Affected individuals are fully conscious during episodes of stiffness, which consist of forced closure of the eyes and an extension of the extremities followed by a period of generalised stiffness and uncontrolled falling at times. [6]