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| Name |
Description |
Preferred ID |
Type |
ID |
Score | ||
|---|---|---|---|---|---|---|---|
| Isaacs Syndrome | 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). | ILX:0105727 | term | ILX:0105727 | 24135.016 | Neuromuscular Disease, Multisystem disease, Disease, Disposition, Realizable entity, Specifically dependent continuant, Dependent continuant, Continuant | Quantal Squander, Continuous Muscle Activity Syndrome, Pseudomyotonia Syndrome of Isaacs, Gamstorp-Wohlfart Syndrome, Isaacs-Mertens Syndrome, Acquired Neuromyotonia, Continuous Myokymia, Pseudomyotonia |
| Isaac syndrome | 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. | MONDO:0019399 | term | ILX:0759437 | 142.64246 | Isaacs' syndrome, neuromyotonia, Isaac's-Merten's syndrome, peripheral nerve hyperexcitability, continuous muscle fiber activity syndrome, acquired neuromyotonia, Isaac-Mertens syndrome, Quantal squander syndrome | |
| hereditary episodic ataxia | 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. | MONDO:0016227 | term | ILX:0758328 | 14.519049 | ea syndrome, episodic ataxia syndrome, Isaacs syndrome, episodic ataxia | |
| episodic ataxia type 1 | 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. | MONDO:0008047 | term | ILX:0762676 | 5.477643 | episodic ataxia, type 1; EA1, continuous muscle Fiber activity, hereditary, ataxia, episodic, with myokymia, myokymia 1, episodic ataxia, type 1, myokymia with periodic ataxia, myokymia 1 with or without hypomagnesemia, paroxysmal ataxia with neuromyotonia, hereditary, EA1, Isaacs-Mertens syndrome, hereditary episodic ataxia caused by mutation in KCNA1, episodic ataxia with myokymia, KCNA1 hereditary episodic ataxia |
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