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Dominant recurrent ataxia and vertigo of childhood
J A Tibbles1, P R Camfield, C C Cron
1Department of Pediatrics, Izaak, Walton Killam Hospital for Children, Dalhousie University, Halifax, NS.
Insights
This study identifies a rare autosomal dominant disorder causing episodic ataxia, vertigo, and vomiting starting in childhood. Acetazolamide effectively halted these debilitating attacks, offering a new treatment option.
Area of Science:
- Neurology
- Genetics
Background:
- Describes an autosomal dominant disorder with childhood-onset recurrent attacks.
- Characterized by prolonged ataxia, severe vertigo, and vomiting, often starting in infancy.
Observation:
- Attacks occur monthly, lasting hours to over a week, with unaltered consciousness but severe symptoms.
- Nystagmus (horizontal/vertical jerk) and vertigo are key features; no muscular weakness observed.
- Interictal periods show mild nystagmus or clumsiness; standard tests were noncontributory.
Findings:
- Identified four families with this distinct neurological condition.
- Conventional therapies for vertigo, epilepsy, and migraine were ineffective.
- Acetazolamide (250-500 mg/day) completely stopped the recurrent attacks.
Implications:
- Acetazolamide is a promising therapeutic agent for this specific type of episodic ataxia.
- Further research into the genetic basis of this disorder is warranted.
- Highlights the importance of considering acetazolamide in managing similar undiagnosed episodic neurological conditions.
Abstract:
Four families are described with an autosomal dominant illness characterized by the childhood onset of recurrent attacks of prolonged ataxia, server vertigo, and vomiting. The attacks often begin in infancy. On the average, attacks occur monthly, and last between one hour to more than a week. Variations in severity occur within families. During an attack, consciousness is unaltered, but severe vertigo makes walking impossible and vomiting is frequent and severe. An attack is marked by horizontal and vertical jerk nystagmus, accompanied by vertigo which is sometimes worsened by position; however, there is no muscular weakness. During an attack, blood gases, ammonia, and amino acid studies are normal. Between attacks patients manifest combinations of slight horizontal or vertical jerk nystagmus or mild clumsiness. Cochlear and labyrinthine studies and neurologic investigations were noncontributory. Conventional therapies for vertigo, epilepsy, and migraine were ineffective, but acetazolamide (250-500 mg/day) stopped the attacks.