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Late Adult-Onset Distal Myopathy in 66 Finnish Patients

Bjarne Udd, MD; Juhani Partanen, MD, PhD; Päivi Halonen, MD, PhD; Björn Falck, MD, PhD; Lauri Hakamies, MD; Hannu Heikkilä, MD; Sinikka Ingo, MD; Hannu Kalimo, MD, PhD; Helena Kääriäinen, MD, PhD; Veikko Laulumaa, MD; Leo Paljärvi, MD, PhD; Juhani Rapola, MD, PhD; Mauri Reunanen, MD, PhD; Vesa Sonninen, MD, PhD; Hannu Somer, MD, PhD

Arch Neurol. 1993;50(6):604-608.

Abstract
• Objective.
—To clarify the classification of two previously reported groups of patients with anterior tibial distal dystrophy, to find additional patients with the disease, and to describe the clinical features of this disease.

Design.
—National survey of the records of patients with neuromuscular diseases in Finland. Findings of selected patients were compared with those of previously reported cases.

Patients.
—Thirty-six previously described patients and 30 additional patients from the current survey, with 41 symptomatic patients and 25 subjectively asymptomatic affected relatives.

Results.
—There were 66 patients with late adult-onset tibial muscular dystrophy. Symptoms appear after the age of 35 years with reduced ankle dorsiflexion, and progress is slow without marked disability. Facial muscles, upper extremities, and proximal muscles are usually spared. Muscle biopsy results reveal nonspecific dystrophic changes in clinically affected muscles, and frequently severe adipose replacement in the anterior tibial muscles occurs. Asymptomatic muscles have mild myopathic changes only. Vacuolar degeneration is detected in a minority of patients. Electromyography shows profound myopathic changes in the anterior tibial muscle, but extensor brevis muscles are well preserved. Computed tomography or magnetic resonance imaging of muscles discloses marked involvement of tibial extensor muscles and focal patches of fatty degeneration in various asymptomatic muscles. Pedigree data suggest autosomal dominant inheritance.

Conclusions.
—Tibial muscular dystrophy might represent a new form of distal myopathy and it is rather common, at least in Finland.

Author Affiliations
From the Neurological Unit, Vasa (Finland) Central Hospital (Drs Udd and Hakamies); Departments of Clinical Neurophysiology (Dr Partanen), Neurology (Dr Laulumaa), and Clinical Pathology (Dr Paljärvi), University of Kuopio (Finland); Departments of Neurology (Drs Halonen and Sonninen), Neurophysiology (Dr Falck), and Pathology (Dr Kalimo), University of Turku (Finland); Neurophysiological Unit, Seinäjoki (Finland) Central Hospital (Dr Heikkilä); Neurological Unit, Jakobstad (Finland) Hospital (Dr Ingo); Departments of Medical Genetics (Dr Kääriäinen), Pathology (Dr Rapola), and Neurology (Dr Somer), University of Helsinki (Finland); and Department of Neurology, University of Oulu (Finland) (Dr Reunanen).

Footnotes
Accepted for publication September 24, 1992.

Reprints requests to Neurological Unit, Vasa Central Hospital, 65130 Vasa, Finland (Dr Udd).

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