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[Familial periodic ataxia].

G Kurlemann¹, I Hörnig, D G Palm

¹Neuropädiatrische Abteilung, Universitäts-Kinderklinik Münster.

Monatsschrift Kinderheilkunde : Organ Der Deutschen Gesellschaft Fur Kinderheilkunde

|August 1, 1988

Summary

Autosomal dominant periodic ataxia is a rare neurological disorder. Early diagnosis and acetazolamide treatment are crucial for effective patient management.

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Area of Science:

Neurology
Genetics

Background:

Periodic ataxia encompasses a group of rare inherited episodic neurological disorders.
Autosomal dominant inheritance patterns are observed in some forms of periodic ataxia.

Observation:

This report details a case of autosomal dominant periodic ataxia.
Fourteen families with this specific condition have been documented globally.

Findings:

Early diagnosis of autosomal dominant periodic ataxia is critical.
Acetazolamide demonstrates significant efficacy in treating affected patients.

Implications:

Prompt diagnosis can lead to timely and effective therapeutic interventions.
Acetazolamide serves as a key treatment option for managing periodic ataxia symptoms.