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Myoclonic dystonia or Myoclonus dystonia syndrome is a rare movement disorder that induces spontaneous muscle contraction causing abnormal posture. The prevalence of myoclonus dystonia has not been reported, however, this disorder falls under the umbrella of movement disorders which affect thousands worldwide. [ 1 ]
Action myoclonus is the most disabling form of myoclonus and can affect the arms, legs, face, and even the voice. It is often associated with tonic-clonic seizures and diffuse neuronal disease such as post-hypoxic encephalopathy , uremia , and the various forms of PME, although, in the case of focal cerebral damage, the disease may be ...
Lance–Adams syndrome (LAS) is a sequela of hypoxic encephalopathy due to respiratory arrest, airway obstruction, cardiac arrest, etc., several days after the onset of hypoxic encephalopathy. A condition that presents with functional myoclonus associated with increased cortical excitability in a few weeks.
Symptoms often include action or stimuli induced myoclonus, seizures, neuropathy, cognitive decline, and spike and wave or no cerebral discharges. [4] The prognosis of those diagnosed with PME is poor. The person often becomes reliant on a wheelchair, enters a vegetative state due to myoclonus, and has a shortened life expectancy. [4] [3]
Progressive myoclonus epilepsy is a disease associated with myoclonus, epileptic seizures, and other problems with walking or speaking. These symptoms often worsen over time and can be fatal. [6] MERRF syndrome is also known as myoclonic epilepsy with ragged-red fibers.
The primary diagnosis for JME is a good knowledge of patient history and the neurologist's familiarity with the myoclonic jerks, which are the hallmark of the syndrome. [38] Additionally, an EEG will indicate a characteristic pattern of waves and spikes associated with the syndrome such as generalized 4–6 Hz polyspike and slow wave discharges.
Myoclonic astatic seizures: seizures that involve a myoclonic seizure followed immediately by an atonic seizure. This type of seizure is exclusive to MAE and is one of the defining characteristics of this syndrome. Tonic seizures: muscle stiffening or rigidity. This seizure is rare in this syndrome.
MERRF syndrome (or myoclonic epilepsy with ragged red fibers) is a mitochondrial disease. It is extremely rare, and has varying degrees of expressivity owing to heteroplasmy . [ 1 ] MERRF syndrome affects different parts of the body, particularly the muscles and nervous system . [ 2 ]