Biomedical subjects

M D Mohire

Publications and source records attributed to M D Mohire.

8 recordsLinked to original sources

PubMed2006

Familial dopa-responsive cervical dystonia.

The authors present four cases from two unrelated families with young-onset predominant cervical dystonia with a dramatic sustained response to levodopa. Onset age was 12 years (range 9 to 15). Additional symptoms included postural hand tremor and laryngeal dystonia. Genetic testing for GTP cyclohydrolase I, tyrosine hydroxylase, and sepiapterin reductase was negative. These cases may represent new forms of dopa-responsive dystonia. Levodopa is advisable in all patients with young-onset cervical dystonia.

Adolescent↗

PubMed1991

Intracranial arteriovenous malformations in two brothers with myotonic dystrophy.

We describe two brothers with myotonic muscular dystrophy and intracranial arteriovenous malformations who developed acute vascular neurological syndromes. The simultaneous occurrence of these two disorders in brothers could either be due to chance association, or due to a common causative mechanism, possibly a membrane abnormality.

Adult↗

PubMed1988

Early-onset benign autosomal dominant limb-girdle myopathy with contractures (Bethlem myopathy).

We report a large French-Canadian kindred with 33 affected members in six generations showing early-onset autosomal dominant limb-girdle myopathy and contractures. This myopathy is unique because of its benign course, with many members only minimally impaired even in old age. Examination of affected members revealed mild to moderate proximal weakness and wasting. Contractures were observed at the elbows and ankles in all, while in some they were more widespread. Serum CK was either normal or slightly raised, and electrodiagnostic studies suggested a primary myopathy. Muscle biopsy revealed nonspecific features of a myopathy without fiber necrosis or regeneration. Cardiac involvement was absent clinically in all patients and at autopsy in two affected individuals. The similarities between four previously reported families and our own establishes this myopathy as a distinct clinicogenetic entity, for which we propose the name "Bethlem myopathy."

Adolescent↗

PubMed1987