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At a glance

It is a rare extrapyramidal genetic disorder characterized by double-sided athetosis occurring in early childhood. It is a type of cerebral palsy manifesting predominantly as bilateral involuntary movements, beginning by the age 3 years and usually preceded by generalized hypotonia, and delayed motor development that is generally associated with difficulty in maintaining a symmetrical posture. The clinical features include slow, writhing, purposeless movements mainly affecting the hands and face (forced laughter and crying). Disturbance of posture is mainly contractures in position with flexion of the knees. There is also disturbance of tonus with over stretchable joint. Besides athetosis spastic and cerebral signs also occur.

Synonyms

Double Congenital Athetosis Syndrome; Congenital Choreoathetosis Syndrome; Vogt’s Syndrome.

History

This medical condition was originally described by Drs Cecile Vogt (1875-1962), a French-German neuropathologist, and Oscar Vogt (1870-1959), a German neurologist. The first observations relatives to athetosis in the literature were provided by William Alexander Hammond, an American Neurologist, in 1871 in his book entitled: “Diseases of the Nervous System.” Dr Hammond created the term “athetosis” from the Greek that means “without fixed position.”

Incidence

The incidence for this rare form of athetosis remains unknown as it is often misdiagnosed for a more general form of cerebral palsy or choreoathetosis. Most patients are good-natured and have normal intelligence. Premature infants frequently affected. Both dominant and recessive autosomal types.

Genetic inheritance

This is an acquired medical condition.

Pathophysiology

Asphyxia during birth delivery is usually recognized at the cause for basal ganglia damage. This is a condition resulting from an ischemic lesions to the brain located especially in the midbrain, thalamic nuclei, paleostriatum (part of the lentiform nucleus, striate body located in the basal ganglia), the internal capsule of the cerebral cortex, caudate nucleus, and the putamen. The association between hypoxia and the surge of extracellular dopamine levels within synapses, causing a dopaminergic neuronal stimulation, has been also suggested as a mechanism of action in cerebral palsy. As a result, the uncontrollable writhing motions observed with athetosis might be the result of this sustained dopaminergic synaptic stimulation. It has also been suggested that kernicterus and severe birth hypoxia at the time of delivery could be involved in the process.

Diagnosis

The movements associated with athetosis are known as athetoid movements. They are present in a child affected with cerebral palsy. Athetosis is caused by ischemic lesions observed in brain areas such as the hippocampus, motor portion of the thalamus, and the corpus striatum. It has been associated with kernicterus and severe birth hypoxia at the time of delivery.

Clinical aspects

Patients affected with this condition present symptoms characterized by slow, ...

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