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Progressive myoclonus epilepsy (PME) is a group of diseases characterized by myoclonus, epileptic seizures, tonic–clonic seizures, and other serious symptoms such as trouble walking or speaking. These rare disorders often get worse over time and can be fatal.
A hypnic jerk, hypnagogic jerk, sleep start, sleep twitch, myoclonic jerk, or night start is a brief and sudden involuntary contraction of the muscles of the body which occurs when a person is beginning to fall asleep, often causing the person to jump and awaken suddenly for a moment.
Periodic limb movement disorder (PLMD) is a sleep disorder where the patient moves limbs involuntarily and periodically during sleep, and has symptoms or problems related to the movement. PLMD should not be confused with restless legs syndrome (RLS), which is characterized by a voluntary response to an urge to move legs due to discomfort.
The most common symptom of PME is myoclonus. [2] The myoclonus can be fragmented or multifocal and can be triggered by posture, actions, and external stimuli such as light, sound, and touch. [2] The type of myoclonus differs between the types of PME. Other symptoms of PME include generalized, tonic clonic, tonic, and atypical absence seizures. [4]
Sleep-related hypermotor epilepsy (SHE), previously known as nocturnal frontal lobe epilepsy, is a form of focal epilepsy characterized by seizures which arise during sleep. The seizures are most typically characterized by complex motor behaviors.
Nocturnal generalized tonic-clonic seizures, which may develop later, are another unfavorable sign. [ citation needed ] If tonic seizures appear, prognosis is poor. Status epilepticus with myoclonic, astatic, myoclonic-astatic, or absence seizures is another ominous sign, especially when prolonged or appearing early.
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]
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. This rare inherited disorder affects muscles cells. [7]