Hereditary nonprogressive athetotic hemiplegia

Abstract

A family with four affected members showed a stereotyped unilateral neurologic deficit. The disorder was characterized in each member by congenital left hemiparesis, with subsequent development of left hemihypoplasia and athetoid posturing of the left hand. Although the proband was initially considered a "cerebral palsy" victim, the autosomal dominant pattern and the stereotyped clinical features in all affected family members suggest a hereditary process. Hereditary factors may be an uncommon cause of static unilateral neurologic motor defects.

Prevalence of Chorea, Dystonia and Athetosis in Assiut, Egypt: A Clinical and Epidemiological Study

“…This was in agreement with the results of Haar and Dyken [10], who conclud ed that postencephalitic athetosis is more common in the childhood period. The record ed cases proved to be more common in fe males than males, perhaps because females may be genetically more liable to the disease.…”

“…Rarely, it may develop during adolescence as a progressive disorder terminating in generalized rigidity. Unilateral athetosis may also be congenital, usually asso ciated with infantile hemiplegia [10], Therefore, this work was planned to esti mate the epidemiology of chorea, dystonia, athetosis, and hemiballismus in Assiut, a rep resentative community of Upper Egypt. We also planned to estimate the prevalence of dif ferent types of these diseases and to assess aetiological factors of particular relevance to the culture of this locality.…”

X‐linked hereditary hemihypotrophy hemiparesis hemiathetosis

“…Our family most closely resembles one family previously reported as HHHH [Haar and Dyken, 1977]. Our family's phenotype differs in that the right side is affected, while the left was affected in the original HHHH family.…”

“…The latter was originally described in a single family in which the male proband, his mother and a maternal uncle were affected, and a maternally related great-grandmother was considered affected based on postmortem review. These individuals had congenital left hemiparesis, followed by left hemihypoplasia and athetoid posturing of the left hand [Haar and Dyken, 1977]. Here we report a second family with HHHH, consisting of three males, related through unaffected females, with congenital right hemiparesis and subsequent right hemihypoplasia.…”

“…Alternatively, the underlying cause could be abnormal regional brain development due to mutations in a gene that is differentially expressed between the right and left cerebral hemispheres [Sun et al, 2005]. The original HHHH paper [Haar and Dyken, 1977] ''referred to an unpublished family in which a young male proband, his brother, his sister, and a maternal uncle were born with right hemiparesis with subsequent development of hemiatrophy, involuntary movements, and seizures'' (OMIM #306960). This disorder could represent HHHH or, considering the seizures, familial porencephaly.…”