Familial Ocular Myopathy and External Ophthalmoplegia

Abstract

INVOLVEMENT of the oculomotor muscles in the course of a generalized muscular dystrophy is not common. Even more unusual is a dystrophy limited to the ocular muscles without evidence of muscular involvement elsewhere in the body. A few such cases have been described by Kiloh and Nevin.1 We are reporting the clinical and pathologic observations on a patient who had this syndrome, and also the clinical findings in four members of his family. These cases form an entity, little recognized clinically, and in addition have a bearing on the subject of "chronic progressive nuclear ophthalmoplegia." REPORT OF CASES Case 1.\p=m-\A. X., a white man aged 68, had been well until about 20 years of age, when he noted the onset of slight ocular ptosis. This became worse slowly and progressively over the course of many years. Sometime after the onset of ptosis, slight external ophthalmoplegia occurred, which also was slowly progressive. Diplopia did not occur. The patient was otherwise well during this time. In 1922, at the age of SS, he fell off a chair and was unconscious for a period of less than a day, although the exact duration is not certain. He was taken to a hospital, where a fracture of the right femur was discovered. There was no fever. The neurologic status and the cerebrospinal fluid were said to have been normal. A diagnosis of epidemic encephalitis was made. Within a month after the accident the fracture healed, but the patient was seen to walk stiffly and had a coarse tremor of all extremities. He became depressed, with occasional crying, and would sit motionless for hours. He was retarded intellectually, but was taken care of by his family without too great effort. In 1932, at the age of 65, urinary incontinence occurred, his stiffness became worse, and his speech was more retarded. During the last two years of life he became gradually worse and was less able to care for himself. Two weeks before his admission to Montefiore Hospital, in June, 1935, he began to vomit and became stuporous.The past medical history was not contributory, except for an attack of "brain fever" in childhood, with further details unknown. The family history was of interest, although there were no known oculomotor difficulties or ptosis in the family prior to the illness of the patient. He was one of five children, two males and three females, none of whom had any significant illnesses. The patient married a first cousin on the maternal side and had two sons, one of whom furnished most of the further details. This son stated that most of the members of the family had thick-boned and large skulls, as determined by roentgenograms, but none had hydrocephalus as far as was known. Further details of the family history are given in the reports of Cases 2 to S and in Figure 4.

Ocular Myopathy

“…Histology of biopsies and post-mortem material [6][7][8][9][10] and electromyographic studies [11,12] confirmed this conclusion.…”

Ophthalmological signs and sensorimotor evaluation in mitochondrial diseases: a multidisciplinary prospective study

“…In 1868 a German ophthalmologist reported the rst case of PEO, attributing the clinical manifestations to disorders of the ocular nerves, about 100 years before description of the rst mitochondrial disorder with the introduction in the medical eld of this new group of diseases [16] and the later report of the rst pathogenic mtDNA variants [17,18], that ushered MDs in the nowadays molecular era. Myopathic etiology of PEO was documented in the mid-1950s [19][20][21][22]. In 1958, Kearns and Sayre reported a clinically distinct form of PEO, KSS, characterized by multisystemic involvement [11].…”

Progressive Ophthalmoplegia

“…Dysphagia was prominent in four patients (8,22,27,28), and dysarthria occurred in three (8,22,28). Weakness and wasting of face and shoulder girdle muscles was encountered twice (6,9). A variety of other neurological abnormali¬ ties occurred in nine cases ( (9) and is described with the case history below.…”

“…Weakness and wasting of face and shoulder girdle muscles was encountered twice (6,9). A variety of other neurological abnormali¬ ties occurred in nine cases ( (9) and is described with the case history below. Five biopsies of clinically affected deltoid or gastrocnemius muscles showed myopathie changes (4,8,17,18,27).…”