The clinical manifestations and psychomotor development of five patients with mucolipidosis IV (MLIV) from three Ashkenazi-Jewish families are reported. The presenting symptoms were hypotonia, developmental delay, corneal clouding, and puffy eyelids. Four of the patients had convergent strabismus and none progressed beyond a developmental age of 15 months. One patient died of aspiration at 17 years while the oldest patient entered puberty at 20 years, developed a coarse face at 30 years, and is now 32 years old. Histopathological studies in four patients showed storage changes characteristic of MLIV.

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This paper retrospectively analyses the clinical data of 65 consecutive cases of hemifacial spasm. A benign etiology was clinically evident in the majority of cases. Neuroradiologic investigation ruled out serious intracranial pathology in atypical cases. Trials of oral medication in 26 patients were consistently unsuccessful. Fifty-one patients had repeated lid and facial muscle injections of botulinum toxin during a period of 8 years. The mean duration of effective relief from spasm following an initial treatment was 18.9 weeks. This effect did not diminish with repeated injections.

When a predetermined surgical strategy is applied to individual patients with unilateral superior oblique palsy, excellent functional improvement can be achieved in the majority of patients.

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Thirty-two patients with spasmodic torticollis were assessed quantitatively for posture deformity, tremor and range of neck movement, and qualitatively for pain and global subjective disability. All patients were then treated with intramuscular botulinum toxin injections into appropriate neck muscles. Fifty-three treatments were administered using dosages of toxin in the range of 50-100 U per muscle. The maximum dose administered at a single sitting was 280 U. The progress of the patients was assessed during an 18-month period. Seventy-five percent of patients showed documented improvement in both subjective and objective parameters and were considered treatment successes. Pain improved in 65%, posture in 65%, tremor in 50% and range in 46%. The side effects that occurred were transient and included fatigue, dysphagia, neck weakness, hoarseness and local pain. This study demonstrates that treatment with botulinum toxin is of significant benefit for the majority of patients with spasmodic torticollis.