An autopsy study of a familial oculopharyngeal muscular dystrophy (OPMD) with distal spread and neurogenic involvement

Abstract

An 81-year-old man from a family with a history of oculopharyngeal muscular dystrophy (OPMD) involving 6 members over 4 generations is described. The patient first noted drooping of his eyelids at the age of 65.Dysphagia and dysarthria occurred soon thereafter. At age 78, impairment of gait developed and progressive wasting occurred in the limbs with an initial distal distribution. Electromyography of several limb muscles displayed a mixed myopathic and neurogenic pattern with giant potentials. Examination at autopsy revealed slight loss of neurons in the anterior horns of the spinal cord, with scanty ghost cells, neuronophagia, and central chromatolysis. By light microscopy the limb muscles showed moderate small-group atrophy with severe myopathy and target fibers. The viscerocranial muscles, including the ocular, vocal, and tongue muscles, demonstrated only myopathic change with the typical features of progressive muscular dystrophy. Advanced replacement by fibrous connective tissue and fat had occurred in both the viscerocranial and the lower limb muscles. The significance of neurogenic involvement in OPMD is discussed.

Oculopharyngeal muscular dystrophy: a late-onset polyalanine disease

“…Autopsy studies have revealed no changes in either the central or peripheral nervous systems, including the brainstem motor nuclei, that could account for the changes in muscle (Bouchard et al, 1997;Tomé et al, 1997). In one autopsy, some loss of spinal cord anterior horn cells was observed in a man who died at age 81 of a pulmonary embolism (Schmitt and Krause, 1981). It is still unclear whether the changes might be fortuitous or if there is true axonal involvement in OPMD (Probst et al, 1982).…”

“…Probably all skeletal muscles are affected, but extraocular, lingual, pharyngeal, and diaphragmatic muscles are more severely involved at autopsy (Rebeiz et al, 1969;Schmitt and Krause, 1981;Little and Perl, 1982). Muscles studied using classical histological methods show changes that are common to many muscular dystrophies.…”

Aspects cliniques fonctionnels et genealogiques de la dystrophie musculaire oculo-pharyngee au Saguenay-Lac-Saint-Jean

“…Plusieurs cas de 75 ans et plus ont aussi fait l'objet de présentation (Schmitt et Krause 1981 ;Pratt et Meyers 1986;Kiel 1986;Serratrice et Pellissier 1987).…”

“…Les mêmes auteurs mentionnent que treize patients (81 %) éprouvaient de l'hypersalivation durant leur sommeil. D'autres chercheurs parlent d'un excès d'accumulation de salive dans la bouche et la gorge durant la journée ou la nuit (Schmitt et Krause 1981 ;Fukuhara et al 1982;Kiel 1986;Buckler et al 1989). Dans notre recherche, l'hypersalivation se retrouve chez quatorze patients (63.6 %).…”

Progressive cytochrome c oxidase deficiency in a case of earns‐sayre syndrome: Morphological, immunological, and biochemical studies in muscle biopsies and autopsy tissues

“…Ragged red fibers (RRF) with mitochondrial abnormalities are always present in muscle tissue [2, 211. At autopsy, abnormal mitochondria have also been found in the brain, and spongiform degeneration has been noted in some cases of ophthalmoplegia plus Ell, 20, 24, 33,37,381. Abnormal lactate metabolism, consistent with the concept of impaired oxidative metabolism, has been described in patients with KSS [36, 401. Complete lack of histochemically demonstrable cytochrome c oxidase activity has been reported in individual muscle fibers in several patients with KSS mitochondrial myopathy [13, 22, 28, 29, 30, 411.…”