The variability of individual clinical presentations and evolution of symptoms have made diagnosis difficult. Therefore the problems of misdiagnosis could account for the low prevalence of this syndrome. [ncbi.nlm.nih.gov]

This mutation is not present in any of the unaffected members of the family and in 250 control chromosomes. [doi.org]

• Icelandic Families

  Englot Neurosurgical Review (2018) COPA syndrome in an Icelandic family caused by a recurrent missense mutation in COPA Brynjar O. Jensson, Sif Hansdottir, Gudny A. Arnadottir, Gerald Sulem, Ragnar P. [doi.org]

• Slender Habitus

  On physical ground, almost all patients shared a similar physical phenotype consisting of hypotonia, long face, thin eyebrows, strabismus, hypertelorism, long palpebral fissures, downturned mouth, and slender habitus. [ncbi.nlm.nih.gov]

• Underweight

  Patients with AHC are frequently underweight due to these side effects. The average age of onset for hemiplegic episodes has been found to be 6–7 months of age. [en.wikipedia.org]

• Thin Eyebrows

  On physical ground, almost all patients shared a similar physical phenotype consisting of hypotonia, long face, thin eyebrows, strabismus, hypertelorism, long palpebral fissures, downturned mouth, and slender habitus. [ncbi.nlm.nih.gov]

• Dysmetria

  The patient shows mild dysmetria and intention tremor at cerebellar functional tests. Cranial nerve examination was normal as well as position and sensations. [doi.org]

• Clonus

  At that time, mild increased tone was found, tendon reflexes were 3 throughout, and a right extensor plantar response and a bilateral achilleus clonus were present. [doi.org]

• Gait Ataxia

  At the last neurological examination (performed at 42 years of age), choreoathetoid movements and horizontal nystagmus were present with mild gait ataxia. [doi.org]

• Psychomotor Regression

  The first was dominated by abnormal eye movements and dystonic episodes, the second by hemiplegic spells and psychomotor regression, and the third by persistent developmental delay and fixed neurologic deficits. [ncbi.nlm.nih.gov]

Characteristics of disease onset, medical comorbidities, episode triggers, diagnostic workup, and treatment are presented. Paroxysmal eye movements were the most frequent early symptom, manifesting in the first 3 months of life in 83% of patients. [ncbi.nlm.nih.gov]

Characteristics of disease onset, medical comorbidities, episode triggers, diagnostic workup, and treatment are presented. RESULTS. [doi.org]

Gastroenterologic evaluation and workup typically yield unremarkable results. [48] Abdominal migraine symptoms are usually relieved with sleep. Antiemetics may help in aborting an acute attack. [emedicine.com]

• Incomplete Right Bundle Branch Block

  Over half the affected cohort (28/52) had intraventricular conduction delay, or incomplete right bundle branch block, a much higher proportion than in the normal population or disease control cohort (P 0.0164). [ncbi.nlm.nih.gov]

• T Wave Abnormality

  Half the cohort (26/52) had resting 12-lead electrocardiogram abnormalities: 25/26 had repolarization (T wave) abnormalities. [ncbi.nlm.nih.gov]

• Ischemic Changes

  change in the above MR study. [ncbi.nlm.nih.gov]

A comparison of the pharmacological actions of successful and unsuccessful treatments for AHC is made. [ncbi.nlm.nih.gov]

Mikati, Diagnosis and Treatment of Alternating Hemiplegia of Childhood, Current Treatment Options in Neurology, 10.1007/s11940-017-0444-7, 19, 2, (2017). [doi.org]

Making an early diagnosis can help to describe to the parents the good prognosis without treatment. [ncbi.nlm.nih.gov]

Alternating hemiplegia of childhood is a predominantly sporadic neurodevelopmental syndrome of uncertain etiology. [ncbi.nlm.nih.gov]

Summary Epidemiology Annual incidence is estimated at 0.9/100,000 newborns. Clinical description Onset occurs before 18 months of age. [orpha.net]

America. 11 Pacific Northwest Diabetes Research Institute, Seattle, Washington, United States of America. 12 Departments of Neuroscience and Pediatrics, University of California San Diego, San Diego, California, United States of America. 13 Department of Epidemiology [ncbi.nlm.nih.gov]

Ana Marissa Lagman-Bartolome and Christine Lay, Pediatric Migraine Variants: a Review of Epidemiology, Diagnosis, Treatment, and Outcome, Current Neurology and Neuroscience Reports, 15, 6, (2015). [doi.org]

Migraine: epidemiology, impact, and risk factors for progression. Headache. 2005 Apr. 45 Suppl 1:S3-S13. [Medline]. [Guideline] Headache Classification Subcommittee of the International Headache Society. [emedicine.com]

The pathophysiology of alternating hemiplegia of childhood (AHC) is unclear. The authors evaluated the skin and muscle biopsies from patients with AHC for vascular abnormalities. [ncbi.nlm.nih.gov]

Amantadine as an alternative agent is used in add-on therapy, but epileptogenic side effect prevented the evaluation of long-term efficacy. [ncbi.nlm.nih.gov]

There are several drugs available for treatment, as well as management strategies for preventing and dealing with hemiplegic attacks. [en.wikipedia.org]

For long-term prevention, low doses of TCAs and flunarizine, a calcium channel blocker, are effective. [55] Other migraine-preventing medications are occasionally of some benefit. [emedicine.com]