Distal myopathy refers to a heterogeneous group of disorders in which the initial manifestations are weakness and atrophy of the hands and feet. We report a family segregating an autosomal dominant distal myopathy, with multiple affected individuals in whom vocal cord and pharyngeal weakness may accompany the distal myopathy, without involvement of the ocular muscles. To our knowledge, this pedigree displays a distinct distal myopathy with the added features of pharyngeal and vocal cord dysfunction (VCPDM) that has not been previously reported. We mapped the MPD2 gene for VCPDM to chromosome 5q within a 12-cM linkage interval between markers D5S458 and D5S1972 in a large pedigree (a maximum LOD score of 12.94 at a recombination fraction of 0 for D5S393) and combined genome screening and DNA pooling successfully adapted to fluorescent markers. This technique provides for the possibility of fully automated genome scans.

We investigated the relative merits of the ocular compression test and the head-up tilt test to aid differentiation of syncope and seizures in young patients. Sixteen patients (10 males and 6 females) with a mean age of 14 +/- 4.7 (SD) years (range 7-22 years) underwent graded head-up tilt (15 degrees, 30 degrees, and 45 degrees for 2 minutes each, then 60 degrees for 20 minutes) following positive ocular compression testing defined as precipitation of asystole for at least 3 seconds (mean 5 seconds +/- 2 seconds, range 3-12 seconds). Each patient presented with recurrent unexplained loss of consciousness (mean number of episodes 30 +/- 45, mean duration of illness 52 +/- 40 months), and seven patients were receiving anticonvulsant medications, three of these had normal EEGs. Eleven patients (69%) developed vasovagal syncope during head-up tilt, reproducing their clinical episodes (systolic blood pressure decreased from 105 +/- 10 mmHg to 84 +/- 13 mmHg, diastolic blood pressure from 75 +/- 9 to 22 +/- 25 mmHg, and heart rate from 89 +/- 13 beats/min to 37 +/- 20 beats/min). Asystole occurred in two patients during vasovagal syncope lasting 11 seconds in one and 16 seconds in the other, and, it was associated with myoclonic movements in both (convulsive syncope). Based on these findings, and given the perceived potential hazards of the ocular compression test, the head-up tilt test may be a safer procedure that adds useful information to the diagnostic evaluation of these patients.

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This study correlates ENG and MRI findings in six patients with cerebellar eye movements. For each subject, both tests independently support the presence of a cerebellar tract abnormality. In two patients, MRI studies confirmed the site of cerebellar dysfunction previously demonstrated by ENG. Although the number of patients is small, the strong correlation (100%) indicates that ENG remains a sensitive method for detection and localization of the origin of cerebellar eye movements. The physiologic information provided by ENG is supported anatomically by MRI. The cerebellar eye movement abnormalities are briefly reviewed.

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