Isaacs Syndrome
Description: A rare neuromuscular disorder with onset usually in late childhood or early adulthood, characterized by intermittent or continuous widespread involuntary muscle contractions; FASCICULATION; hyporeflexia; MUSCLE CRAMP; MUSCLE WEAKNESS; HYPERHIDROSIS; TACHYCARDIA; and MYOKYMIA. Involvement of pharyngeal or laryngeal muscles may interfere with speech and breathing. The continuous motor activity persists during sleep and general anesthesia (distinguishing this condition from STIFF-PERSON SYNDROME). Familial and acquired (primarily autoimmune) forms have been reported (MeSH).
Preferred ID: ILX:0105727 Type: term ID# ILX:0105727 Score: 24135.016
Isaac syndrome
Description: Isaac's syndrome is an immune-mediated peripheral motor neuron disorder characterized by continuous muscle fiber activity at rest resulting in muscle stiffness, cramps, myokymia, and pseudomyotonia.
Preferred ID: MONDO:0019399 Type: term ID# ILX:0759437 Score: 142.64246
hereditary episodic ataxia
Description: Hereditary episodic ataxia (EA) represents a group of neurological disorders characterized by recurrent episodes of ataxia and vertigo which may be progressive. Weakness, dystonia and ataxia are sometimes present in the interictal period. Seven types of EA have been described to date (EA type 1 to EA type 7, see these terms), but most of the reported cases belong to EA1 and EA2.
Preferred ID: MONDO:0016227 Type: term ID# ILX:0758328 Score: 14.519049
episodic ataxia type 1
Description: Episodic ataxia type 1 (EA1) is a frequent form of Hereditary episodic ataxia (EA; see this term) characterized by brief episodes of ataxia, neuromyotonia, and continuous interictal myokymia.
Preferred ID: MONDO:0008047 Type: term ID# ILX:0762676 Score: 5.477643
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