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Two cases, one being probably familial, of ocular myopathy are reported. In both the onset was in childhood by ptosis of the eyelids and the course lasted more than 20 years. The patients (32 and 49 years) presented involvement of the ocular muscles as well as of the facial, pharyngolaryngeal, neck and limb muscles. There was, in both cases, marked body weight loss which could not be explained by the muscular atrophy alone, and a thyroid nodule which was not accompanied by evident change in thyroid function. Muscle biopsy studies were carried out : electron microscopy showed in both cases aggregates of mitochondria exhibiting various changes ; in one case histochemistry demonstrated that these changes were confined to type 1 muscle fibres. These cases of descending ocular myopathy can be included therefore in the group of the smaller than myopathies with abnormal mitochondria greater than.
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PMID:[Mitochondrial abnormalities and ocular myopathies with downward-spreading evolution. Apropos of 2 new cases]. 12 43

To our knowledge, the juvenile form of spongy degeneration of the CNS (SD-CNS); van Bogaert-Bertrand disease) has been described previously only three times. We report the case of 21 1/4-year-old Japanese woman who was first seen at the age of 11 with growth retardation, ptosis, and ophthalmoplegia. Her progressive neurodegenerative disease included retinitis pigmentosa, blindness, partial deafness, cerebellar dysfunction, hyporeflexia, and muscle wasting. Simultaneous endocrine defects were diabetes mellitus and probable hyperaldosteronism. Heart block developed later. She died of bronchopneumonia. Autopsy showed CNS stigmas typical of spongy degeneration. Additional findings included peripheral nerve demyelination, neurogenic muscle atrophy, pituitary and pancreatic atrophy, right adrenal agenesis, and a left adrenal coritcal lipid-cell adenoma. To our knowledge, our patient was the oldest survivor, the first patient of Japanese ancestry, and had a unique concurrence of certain oculoendocrine defects.
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PMID:Spongy degeneration of the CNS: an instance of the rare juvenile form. 50 59

The paper is concerned with a description of an atypical clinical picture of Charcot-Marie-Tooth neuronal amyotrophy in 2 eight-year old monozygotic twins. The traits of the disease were characterized by a deformation of the feet, mild cerebellar symptoms, development of ptosis and other myopathical symptoms, an enlargement of the transversal nerve of the neck and a distribution of the process to the proximal parts. The diagnosis was confirmed by EMG studies. The authors detected a large amount of abortive signs in many members of the family both along the mothers, as well as fathers line. This observation demonstrates clinical and genetical polymorphism of neuronal amyotraphy.
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PMID:[Polymorphism of Charcot-Marie-Tooth neural amyotrophy in uniovular twins]. 56 55

A new syndrome of autosomal recessive spastic ataxia has been isolated in the Charlevoix-Saguenay region of Quebec. This syndrome is remarkably homogeneous and includes: spasticity, dysarthria, distal muscle wasting, foot deformities, truncal ataxia, absence of sensory evoked potentials in the lower limbs, retinal striation reminiscent of early Leber's atrophy and the frequent presence (57%) of a prolapse of the mitral valve. Biochemically, many cases show impaired pyruvate oxidation, others have hyperbilirubinaemia and some have low serum beta-lipoproteins and HDL apoproteins. These features are similar to those found in typical Friedreich's ataxia.
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PMID:Autosomal recessive spastic ataxia of Charlevoix-Saguenay. 64 99

A 42-year-old woman was admitted for complaining of gait disturbance lasting for 2 years. She had a past history of hearing loss and bilateral ocular ptosis since her age of 21 years. Neurological examinations revealed severe external ophthalmoplegia, ptosis and muscular weakness of neck and extremities, but no dementia. Laboratory examinations showed high level of serum CK and slight elevations of CSF protein, lactate and pyruvate. The QT interval on ECG was prolonged. The EEG finding was slightly abnormal. The neurogenic pattern on EMG was noted. Muscle biopsy was performed at the quadriceps muscle. Its specimens demonstrated mixed changes of muscular atrophy and ragged red fibers. From these findings, Kearns-Sayre-Shy syndrome was diagnosed. It was noted in this case that brain MRI (T2-weighted image) revealed bilateral diffuse high signal intensity areas on cerebral white matter and brainstem. It seems that the lesions of central nervous system may progress subclinically for many years in cases of KSS, as our case shows.
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PMID:[A case of Kearns-Sayre-Shy syndrome with abnormal signal intensity on MRI in cerebral white matter and brainstem]. 193 67

Among 189 consecutive cases with neuromyopathies, abnormalities of mitochondria in the muscles were seen in 5 cases. Ragged rad fibers (Rrf) were found with muscle biopsy with the use of staining of Gomory Trichrome. The ultrastructural abnormalities as revealed under the electron microscope in the mitochondria were as follows: 1. the mitochondria contained a lot of paracrystalline inclusion; 2. they were composed of lamellae; and 3., the mitochondria also showed dense spherical inclusions with abundant glycogen-rich sarcoplasm. The clinical manifestations of these patients consisted of: 1. muscular atrophy of various degrees. 2. muscular weakness of the proximal parts of the limbs, and 3. ptosis and ophthalmoplegia (in three cases). Three of the patients were treated with coenzyme Q10 with improvement of some of the symptoms and signs.
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PMID:[A clinical, histochemical and ultrastructural study of mitochondrial myopathy]. 217 86

Tubular aggregates (TA) are unusual intramuscular structures stained basophilic on hematoxilin and eosin (HE) staining and red on modified Gomori trichrome (GT) staining. The structures are said to be originated from sarcoplasmic reticulum and are collections of tubules with double membranes on electron microscopic studies. The TA are usually seen in biopsy muscles from patients with muscle pain and cramps but without muscle weakness, periodic paralysis or alcoholic myopathy. In addition, there are five reports on families with progressive myopathy and tubular aggregates in the literature. We presented here a 48-year-old postman without any family history, who had had progressive muscle weakness for 17 years. He had never noticed pain or cramps in his muscles, not taken any particular medicine, and not had regular alcoholic beverages. There was no ptosis, facial weakness, masticatory muscle weakness or dysphagia. Muscle wasting, started from the proximal part of four extremities had progressed to the distal part of them. He could not walk on heels or toes and walked with waddling gait. He stood up with Gowers' maneuver. Serum GOT, GPT and CK were elevated. EMG showed myogenic pattern and MCV was normal. The muscle biopsies were performed; the first one taken from quadriceps femoris muscle at 42 years old showed myopathic changes including marked variation in fiber sizes, with scattered necrotic fiber splitting and TA in type 2B fibers. The second biopsy from biceps brachii muscle at the age of 48 years, showed densely proliferated fibrous tissues, marked variation fiber sizes and scattered split fibers. The TA were rarely seen and type 2B fibers were decreased in number.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:[A case of progressive myopathy with tubular aggregates]. 268 70

Experimental autoimmune myasthenia gravis (EAMG) was induced in rhesus monkeys using purified acetylcholine receptor (AChR) from Torpedo california. A single dose of 80 micrograms induced antibody formation two weeks after injection. Two subsequent doses at two-week intervals caused clinical signs (anorexia, fatigability, weight loss, ptosis and dysphagia) which initially responded to treatment with neostigmine. Histologic examination of post-mortem tissues revealed lesions characteristic of myasthenia gravis in man: muscular atrophy, fibrous degeneration and lymphocytic infiltration. Antibodies were quantitated in the sera of three other monkeys which received only 60 micrograms of purified AChR. Abnormally high titers persisted for two years (60-200 micrograms /ml versus 0-10 micrograms/ml for controls). A monkey injected with 60 micrograms AChR as part of reconstituted membrane vesicles had lower titers (30-50 micrograms/ml) than those which received purified receptor. Only those monkeys with antibody titers exceeding 800 micrograms/ml developed overt disease. These titers were 4-100 times higher than those reported for myasthenic humans. The antibody-antigen molar ratios were higher for monkeys with disease than for asymptomatic animals. These data suggest that the diversity of antibody molecules synthesized by the sensitized monkeys determined the appearance of clinical signs, and that the cross reaction of anti-torpedo antibodies with monkey receptor was primarily responsible for the development of EAMG.
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PMID:Induction of experimental myasthenia gravis in rhesus monkeys: a model for the study of the human disease. 379 23

The authors report the case of a 12 year-old child who presented with a syndrome, isolated in Quebec, including spasticity, ataxia, distal muscle wasting, pes cavus, retinal striation, and the frequent presence of a prolapse of the mitral valve. This autosomal recessive disease is similar to Friedreich disease.
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PMID:[Recessive autosomal spastic ataxia]. 662 48

A patient had distal muscular atrophy involving the upper and lower extremities, ptosis of the lid, and ophthalmoparesis and cataracts. Muscle histochemistry and electromyographic examination showed lower motor neuron involvement. This case is similar to others described in the literature and designated as distal spinal muscular atrophy. The unique association with ophthalmologic signs can be considered either as a variant form of the disease or as a separate entity. Muscle biopsy showed selective type 2 muscle fiber hypotrophy in the biceps. A second biopsy specimen of the quadriceps showed type grouping with persistence of small type 2 fibers, suggesting that reinnervation capability is independent of neuronal trophic influence.
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PMID:Distal spinal muscular atrophy and ophthalmoparesis. A case with selective type 2 fiber hypotrophy. 727 41


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