Progressive Brain Atrophy in Alternating Hemiplegia of Childhood
نویسندگان
چکیده
منابع مشابه
Alternating hemiplegia of childhood: new diagnostic options.
A syndrome of alternating hemiplegia of childhood (AHC) is a rare disorder first presented in 1971. AHC is characterized by transient episodes of hemiplegia affecting either one or both sides of the body. Age of onset is before 18 months and the common earliest manifestations are dystonic or tonic attacks and nystagmus. Hemiplegic episodes last minutes to days and the frequency and duration ten...
متن کاملChild neurology: alternating hemiplegia of childhood.
Jeffrey R. Tenney, MD, PhD Mark B. Schapiro, MD Alternating hemiplegia of childhood (AHC) is a rare disorder characterized by recurrent attacks of hemiplegia affecting either side of the body, abnormalities of ocular movement, movement disorders, and progressive developmental delay. Children with AHC often have a delay in diagnosis or are misdiagnosed. A broad differential diagnosis is necessar...
متن کاملA functional correlate of severity in alternating hemiplegia of childhood.
OBJECTIVE Mutations in ATP1A3, the gene that encodes the α3 subunit of the Na(+)/K(+) ATPase, are the primary cause of alternating hemiplegia of childhood (AHC). Correlations between different mutations and AHC severity were recently reported, with E815K identified in severe and D801N and G947R in milder cases. This study aims to explore the molecular pathological mechanisms in AHC and to ident...
متن کاملRecognizable facial features in patients with alternating hemiplegia of childhood.
Alternating hemiplegia of childhood is an early onset neurodevelopmental disorder characterized by paroxystic episodes of alternating hemiplegia, variable degrees of intellectual disability, and dystonic movements. The main causative gene, ATP1A3, is also responsible for other neurodevelopmental disorders. While the neurological profile of this condition is well defined, the question whether a ...
متن کاملCaregiver's burden and psychosocial issues in alternating hemiplegia of childhood.
UNLABELLED Alternating hemiplegia of childhood (AHC) is rare disorder characterised by recurrent attacks of hemiplegia followed by developmental delay. We investigated the parental perceptions and psychosocial issues of AHC. Using a questionnaire sent to the French AHC association, we investigated families' concerns and needs of support. Additionally, we evaluated the impact of this disease. ...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
ژورنال
عنوان ژورنال: Movement Disorders Clinical Practice
سال: 2017
ISSN: 2330-1619
DOI: 10.1002/mdc3.12451