Alternating Hemiplegia of Childhood 1

Alternative Names

  • AHC1
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WHO-ICD-10 version:2010

Diseases of the nervous system

Cerebral palsy and other paralytic syndromes

OMIM Number

104290

Mode of Inheritance

Autosomal dominant

Gene Map Locus

1q23.2

Description

Alternating hemiplegia of childhood (AHC) is a rare neurologic condition characterized by intermittent episodes of unilateral paralysis. Clinical symptoms include tonic seizures, dystonia and dyspnea that occurs separately or in conjunction with the transient hemiplegia. Hemiplegic episodes that occur in those affected, may last from a few minutes to several days and can be triggered by a variety of environmental and physical factors. Characteristically, these episodes disappear immediately when the affected person is asleep but may reappear shortly after waking.

Majority of familial AHC cases are the result of mutations in the ATP1A2 (ATPase, Na+/K+ Transporting, Alpha-2 Polypeptide) gene, located on chromosome 1. This gene codes for the alpha subunit of the sodium-potassium ATPase, and mutations in it alter the transportation of sodium and potassium ions across the cell wall.

Epidemiology in the Arab World

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Other Reports

Oman

Cherian et al. (1998) reported two cases that presented with features of alternating hemiplegia, neither of which had any family history of such a condition. The first case was a 19-month-old female born to non-consanguineous parents, who presented with the symptoms at the age of 20 days. Her mental and motor milestones were normal. Clinically, she was not dysmorphic, with no neurocutaneous markers, organomegaly, or neurological deficit in between the attacks. All investigations, which included renal and liver function tests, hematological tests (hemoglobin electrophoresis, Protein C, Protein S and antithrombin III levels), autoantibody profile, aminoacidogram, lactate levels, and CT scan of the brain were normal. An EEG revealed slowing during an episode of weakness. The patient did not respond to trials of various antiepileptic drugs. However, an improvement which included decrease in the frequency of the attacks along with shortening of the duration was noticed when the antiepileptic drugs were discontinued, and the patient was started on calcium channel blocker. She was followed up in the outpatient clinic and had no side effects of the drug. The second case was a 30-month-old male, who presented with three paroxysmal alternating episodes of acute onset weakness involving the upper limbs with spontaneous resolution within two to three hours. The clinical picture was similar to the first case but with less frequent attacks. Examination and investigations including EEG were all normal. The child was on regular follow up and was not put on any medications.

[Cherian EV, Alexander PC, Koul RL. Alternating hemiplegia of childhood, a report of two cases. Oman Med J. 1998; 14(3):57-9.]

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