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Biomedical subjects

M Baraitser

Publications and source records attributed to M Baraitser.

At least 181 records · Page 10Linked to original sources
PubMed1983

Relevance of a family history of seizures.

The approximately tenfold increase in risk (1 in 250 to 1 in 25) to those who have a positive but not extensive family history of recurrent seizures would seem to be considerable but the actual figure of 4% is small. Only if the family history concerns at least 2 closely related members does the risk reach the 10% mark (on the borderline between high and low), but even then the burden of the disorder and response to treatment in the other family members should be taken into account. Familial epilepsy often responds more readily to therapy than other types.

Adolescent↗
PubMed1982

X-linked recessive bulbospinal neuronopathy: a report of ten cases.

A form of adult onset 'bulbospinal muscular atrophy' of X-linked recessive inheritance is described in 10 patients from eight families. Muscle weakness in the limbs was mainly proximal and developed in the third to fifth decades of life, often preceded by muscle cramps on exertion and tremor of the hands. Weakness and fasciculation of the facial muscles and tongue were prominent. All the patients had gynaecomastia and some were infertile. Two had diabetes mellitus. Motor nerve conduction studies were normal but most patients had small or unrecordable sensory action potentials in the absence of clinical sensory loss. Plasma creatine kinase levels were considerably elevated and muscle biopsies showed neurogenic atrophy together with secondary myopathic changes. The importance of recognising this distinctive disorder in single cases (six of the present series) is emphasised.

Biopsy↗
PubMed1982

Joubert-Boltshauser syndrome with polydactyly in siblings.

Two siblings are described with clinical features of the Joubert-Boltshauser syndrome. Both had polydactyly and one had fleshy tumours of the tongue. Computed tomography of the brain showed hypoplasia of the cerebellar vermis, associated in one case with a cyst of the fourth ventricle.

Apnea↗