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[Congenital facioscapulohumeral muscular dystrophy associated with tongue atrophy and sensorineural hearing disturbance].

An 18-year-old high-school boy presented facial muscle weakness since birth, and then developed wasting around the neck, shoulder girdle, upper arms, and thighs. He was born to un-consanguineous parents. His father had suffered from similar but milder muscle atrophy with predominance on the right side of the face and shoulder girdle since adolescence. His mother and his only sibling were clinically unaffected. Hearing disturbance was detected at the age of 6, and he also noted atrophy of the tongue and the bilateral thighs at the age of 10. The symptom progressed gradually. Neurological examination on admission revealed a well-developed boy (166 cm/60 kg) with a prominent facial diplegia with distinct proximal muscular atrophy of the extremities. Muscles of the tongue, neck, upper arms, shoulder and pelvic girdles, and hamstrings were markedly involved. The anterior tibial muscles were also affected, while the calf muscles were hypertrophic. High arched palate, X legs, mild lordoscoliosis were also noted. Serum CK was slightly increased (424 IU/l), and needle EMG in the extremities including the tongue revealed myopathic changes. Muscle CT demonstrated marked atrophy of the proximal muscles in the lower limbs and hypertrophy of the calf muscles. Audiogram showed bilateral sensorineural hearing disturbance. Muscle biopsy of the gastrocnemius showed myogenic as well as neurogenic changes consisting of atrophic and hypertrophic fibers with interstitial cellular infiltration, and type I fiber predominance. With these family history as well as clinical and laboratory examinations, this case could be diagnosed as "congenital facioscapulohumeral muscular dystrophy".(ABSTRACT TRUNCATED AT 250 WORDS)

Adolescent↗

[Enzyme-and immuno-histochemistry of muscle biopsies in severe infantile spinal muscular atrophy].

The basic lesions in the muscle biopsies of 11 cases of severe infantile spinal muscular atrophy showed typical neurogenic fascicular muscular atrophy. It was found through histochemistry staining that both types of muscle fibres were involved which were characterised by the presence of type grouping of the damaged fibers, anyhow, the original mosaic pattern of both types were still partially reserved. With anti-laminin immunofluorescence staining, it was demonstrated that the basal membrane of atrophied small muscle fibre was still intact. It is considered that the main manifestation of damage on spinal anterior horn neuron is denervation of the skeletal muscle; meanwhile, the function of the muscle fibre in regulations carbohydrate metabolism is not apparently obstructs. The pathologic process of this disease develops from denervation to renervation and then back to denervation again. Therefore the clinical feature of muscle atrophy in this disease is progressive and developmental.

Anterior Horn Cells↗

Leukoaraiosis: correlation of MR and CT findings with blood flow, atrophy, and cognition.

Hypodense periventricular white-matter lesions detected by CT (leukoaraiosis) and high-intensity T2 signals detected by MR imaging were correlated with measurements of local cerebral blood flow (LCBF), cerebral atrophy, and cognitive performance. Subjects studied included elderly volunteers who were neurologically normal (n = 6), patients with chronic cerebral infarctions and intact cognition (n = 2), patients with multiinfarct dementia (n = 14), and patients with Alzheimer dementia (n = 9). Leukoaraiosis correlated with periventricular high-intensity lesions detected by MR, LCBF reductions, cognitive impairments, and cerebral atrophy. Moderate to severe leukoaraiosis was associated with LCBF reductions in the cortex, basal ganglia, and frontal white matter. Periventricular MR lesions correlated with cerebral atrophy but not with cognitive impairments or reductions in LCBF. The exquisite sensitivity of MR revealed small lesions that did not correlate with LCBF reductions and cognitive impairments. Remote subcortical white-matter lesions detected by MR did not correlate with periventricular MR lesions, leukoaraiosis, LCBF, cerebral atrophy, or cognitive performance, indicating little clinical relevance. We concluded that diffuse cerebral hypoperfusion, particularly in combination with the poor collateral circulation of white matter surrounding the lateral ventricles, is responsible for leukoaraiosis.

Aged↗

Olivopontocerebellar atrophy presenting with hemiparkinsonian ocular motor signs.

A patient with olivopontocerebellar atrophy presented with an asymmetric parkinsonian syndrome consisting of right limb rigidity, bradykinesia, masked facies, and a hypophonic, monotonous voice. Right limb clumsiness suggested corticospinal tract involvement. Gait was slightly wide based, but no other cerebellar or brainstem signs were present. Eye movements were characteristic of parkinsonism with low-gain pursuit and hypometric rightward saccades. Saccadic velocity and the vestibular ocular reflex were within normal limits. There was no pathologic nystagmus or saccadic dysmetria. Magnetic resonance imaging showed cerebellar and lower brainstem atrophy virtually diagnostic of olivopontocerebellar atrophy. Olivopontocerebellar atrophy may present uncommonly with asymmetric parkinsonian features, including parkinsonian eye movement abnormalities.

Humans↗

[Aran-Duchenne? Duchenne-Aran? The quarrel around progressive muscular atrophy].

A description of progressive muscular atrophy, the first item in neuro-muscular nosography, figures in the memoir published by F.A. Aran in 1850. There, all the essential features of the disease can be found: its usual onset at the distal end of the upper limbs, its slowly progressive worsening, with muscular atrophy sparing certain muscles or muscular fascicles, its peculiar "claw hand", its muscular "fasciculations" and cramps, with untouched sensitivity. After praising Aran's "beautiful description", G.B. Duchenne de Boulogne subsequently persisted in claiming paternity, untiringly referring to a memoir on "muscular atrophy with fatty transformation" said to have been submitted to the Académie des Sciences in 1849. There is no trace of this memoir, and while it is true that the "localized electrisation" technique was applied by Duchenne to all the patients in Aran's memoir, and that he was the sole author of two of his observations, it is Aran who must be credited with the clinical description, the synthetic presentation and the appellation of "progressive muscular atrophy". Initially, this term covered a number of disparate facts which were later identified and put in their proper nosological place, even though this dismemberment left standing what Charcot called "Duchenne-Aran disease" before the Aran-Duchenne denomination prevailed. This denomination is now customary, and rightly so.

Eponyms↗

[A case of flexion myelopathy presenting juvenile segmental muscular atrophy of upper extremities--a successful treatment by cervical spine immobilization].

A 24-year-old man was well until 1982, when he noticed weakness and atrophy of right arm especially those of biceps muscles. These symptoms did not progress until 1988. In 1988 weakness of left elbow flexion appeared and he was admitted to our hospital. On examination, he had weakness and atrophy of both upper extremities. Fasciculation was noticed in the proximal part of right arm. When his head was bent forward, dysesthesia appeared around radial side of his arm. There were no long tract sign or objective sensory loss. EMG showed neurogenic change over both his upper extremities. In plain cervical roentgenogram there existed abnormal kyphosis of cervical vertebrae. In MRI imaged with his neck flexed, cervical cord was compressed by the posterior surface of 4th cervical vertebral body, which corresponded to the top of cervical kyphosis. Based on these signs and examinations, a diagnosis of flexion myelopathy was made. Spinal immobilization by wiring and bone graft implantation ranging from C2 to C6 was performed to limit the range of anterior nuchal flexion. After this operation, improvement of muscle strength along with the disappearance of dysesthesia on neck flexion was observed. Clinically, this case closely resembles to juvenile type of distal and segmental muscular atrophy of upper extremities (Hirayama type). From our study, pathomechanism of this case seems to be a flexion myelopathy at C4 level. This view is supported also by the good recovery after the operation. This case suggests that nonprogressive atrophy of upper extremities due to flexion myelopathy can be successfully treated by cervical spine immobilization.

Adult↗

Mass effect and atrophy after stroke.

Cerebral edema, resolution of edema, and subsequent development of cerebral atrophy were studied prospectively in 83 patients with ischemic stroke with CT 3 days, 2 weeks, and 6 months post-stroke. Nineteen patients had large (diameter greater than 3 cm), 25 medium sized (diameter greater than or equal to 1.5 less than or equal to 3 cm), and 15 lacunar infarcts (diameter less than 1.5 cm). In 24 patients no infarcts were seen. Changes of Evans' ratio (ER), septum-caudate distance (S/C), and width of widest cortical sulci (SuW) were taken as markers of mass effect/atrophy. These parameters were within normal limits in most cases. However, when all CT scans performed in each patient were compared, changes of ER, S/C, and SuW became apparent as evidence of mass effect and subsequent atrophy development. Mass effect occurred in 81 percent and atrophy in 58 percent of patients with large infarcts. In patients with medium sized infarcts, mass effect occurred in 38 percent and atrophy in 45 percent.

Adult↗

Measurement of conchal atrophy and pneumonic lesions and their association with growth rate in commingled feeder pigs.

A group of 85 commingled feeder pigs was fed on a totally confined feeding floor until slaughter. Mean daily weight gain was calculated for each pig. At slaughter, the nose of each pig was cross-sectioned and scored for conchal atrophy by use of 2 methods. One method ascribed a score based on a linear measurement of the distance between the ventral scroll of the ventral conchae and the ventral floor of the nasal cavity. The other method ascribed a score based on a subjective evaluation of the degree of conchal degeneration according to previously published guidelines. The amount of pulmonary consolidation attributable to pneumonia was also estimated for each pig. Association was not found between growth rate and conchal atrophy, as determined by linear measurement scores. A negative correlation existed between growth rate and conchal atrophy, as determined by subjective evaluation scores. Pigs with extensive pneumonic lesions (consolidation of 20 to 30% of total lung volume) grew slower than pigs with milder pneumonic lesions. Results of this study indicate that subjective evaluation scores of conchal atrophy may be more useful in predicting growth rate than are linear measurement scores.

Animals↗

[Postpolio late progressive muscular atrophy--clinical and epidemiologic analyses in 4 Japanese cases].

Four Japanese cases of postpolio progressive muscular atrophy (PPMA) of late onset were clinically studied to characterize their clinical features and discussed upon the epidemiologic viewpoint. Four male patients were included with mean age of 43.5 (30-59) years on examination, diagnosed as PPMA after the criteria by Alter (1982) and Dalakas (1986). All suffered from polio at age 10 month to 8 years (mean: 3y) between 1931 and 1957 with residual motor paresis in one limb or two. Twenty-eight to 55 (mean: 40.3) years later, subsequent muscle weakness and atrophy appeared in the limb seemingly unaffected by the initial polio attack. Marked fasciculations and occasional myalgias were noticed without sensory disturbance and bulbar as well as upper motor neuron signs. Laboratory examinations revealed moderate elevations of serum CK and protein content in SCF. No significant elevation of polio virus antibody titers was found in both serum and CSF. Electromyography showed neurogenic changes of various degrees by muscle tested. Muscle CT disclosed patchy distribution of atrophied muscles with fatty replacement in all extremities. Spinal cord MRI images were unremarkable. Scatters of small grouped atrophy and fiber type grouping were noticed on muscle biopsy specimens. These findings summarized in our cases are generally compatible with those of hereby reported PPMA cases. On reviewing the western literature and the great epidemic of polio around 1960 in Japan, an increasing number of patients with PPMA can be anticipated in near future; possibly in 10 years.

Adult↗

Muscle fibre size and number following immobilisation atrophy.

Muscle fibre number and cross sectional area were studied in the response to immobilisation atrophy of the long head of the triceps brachii. Following eight weeks of immobilisation, fibre number of the muscle from the immobilised limb was compared to that of the contralateral control limb in six rats. Mean fibre cross sectional area of the LHT from the immobilised limb was compared to that of the contralateral control for another six animals. Atrophy, as estimated by a decrease in wet muscle weight, was 38.0% for the group used for fibre number estimations and 45.7% for the group used for fibre area. Fibre counts revealed no difference between muscles from immobilised and control limbs. Mean fibre area was 42.1% less for the muscle from the immobilised limb compared to the control limb. The results of this study indicate that atrophy of the LHT produced by immobilisation of the forelimb is the result of atrophy of the muscle fibres without a decrease in muscle fibre number.

Animals↗

Atrophy of left lobe of the liver associated with hepatolithiasis and cholangiocarcinoma.

A case of liver atrophy associated with hepatolithiasis and cholangiocarcinoma is presented. Intraductal calculus and left hepatic lobar atrophy were seen on both ultrasound and computerised tomography examinations. The lobar atrophy was accompanied by hypoplasia of left common hepatic artery. Cholangiocarcinoma was diagnosed on histology. There have been several reported cases of hepatolithiasis and cholangiocarcinoma. To our knowledge, there has been only one reported case of hepatolithiasis and cholangiocarcinoma with liver atrophy (Nishihara K et al 1986) but this was not angiographically demonstrated.

Adenoma, Bile Duct↗

[The initial symptoms of cerebral atrophy (author's transl)].

The paper reports about the initial symptoms of cerebral atrophy. A general view of the special literature about the aetiology, diagnosis and clinical forms of cerebral atrophy will be given. The initial symptoms of cerebral atrophy will be given. The initial symptoms of cerebral atrophy, their structure, the connections between them and their social consequences will be discussed. The difficulties of the use of a standard psychopathometrical trial including all the symptoms will be described. We think that the description of symptoms in each individual case is more precise than a collective description under a vague syndrom-labelling.

Alzheimer Disease↗

[Muscle fiber type abnormalities in bulbospinal muscular atrophy. Comparison with amyotrophic lateral sclerosis].

Bulbospinal muscular atrophy (BSA) is a distinct clinical type of chronic spinal muscular atrophy of adult onset, which was first reported by Kennedy et al. Histochemical findings of involved muscles are poorly described. In the present study, the muscle fiber type was studied on biopsied specimens by the histochemical method. The results were compared with those of amyotrophic lateral sclerosis (ALS). Muscle specimens were obtained mainly from biceps brachii muscles of 7 cases of BSA and 10 cases of ALS. Both group of patients were matched in respect to age, sex and stage of muscle weakness. The following results were obtained. Histopathological findings of BSA are classed as stage 4 abnormalities of Jennekins. Both fiber type grouping and type 2B deficiency are more frequent in BSA than in ALS. Type 2C fiber seems to be more in ALS than in BSA. Atrophy factor of Dubowitz is the same in BSA and in ALS. Hypertrophy factor is more prominent in BSA than in ALS. Significant correlation between fiber type grouping and type 2B deficiency was confirmed in muscles from other neurogenic atrophy. Since there is a significant association of the type 2B deficiency with fiber type grouping, type 2B fiber might be transformed to type 2A during the reinnervation process. The adaptation to the increased activities of the survived muscles and motoneurons might be contributory to the transformation, which is already known to occur in normal subjects during the endurance training.

Adult↗

Facioscapulohumeral type spinal muscular atrophy: report of a case.

A case of muscular weakness and atrophy with a facioscapulohumeral distribution is described in this report. The neurogenic origin, as judged from the results of laboratory studies, is discussed. The diagnosis and classification of the spinal muscular atrophy syndrome are also discussed. Facioscapulohumeral type spinal muscular atrophy is thought to constitute a distinct form of spinal muscular atrophy.

Adolescent↗

[Radiation-induced brain atrophy].

Clinico-pathologic characteristics of radiation-induced brain atrophy were reviewed. Radiation-induced brain atrophy becomes obvious 2 to 3 months after radiation therapy in more than half of the patients who have been irradiated to the brain. Mental and neurologic deterioration were well correlated with the severeness of brain atrophy. Pathologically, demyelinating process secondary to direct neurotoxicity of irradiation seemed to be responsible for the entity. A large target field or whole brain irradiation and the senility of patients were major risk factors. The most important differential diagnosis is normal pressure hydrocephalus which is basically curable. The prognosis of radiation-induced brain atrophy is poor. The only possible method to protect the brain from this pathologic entity is to minimize target field as much as possible.

Age Factors↗

[Ultrastructural mechanisms of myocardial atrophy in white rats during starvation].

By means of complex morphological, morphometrical and stereological analyses the myocardium of Wistar rats was studied in full alimentary starvation during 6 days. The availability of two mechanisms of myocardial atrophy in adaptation to full starvation was revealed, these are the diminution of dimensions of parenchymatous elements and the decrease of muscle cell number. By ultrastructural investigation of cardiomyocytes the signs of structural protein synthesis decline were revealed, this is a simple myocardial atrophy. In quantitative analysis of cardiomyocytes the decrease of their number without changes in proportions of cells with different nuclei number was observed, that indicated systematic character of muscle cell elimination out of myocardium by apoptosis mechanism involvement, this is a numerical myocardial atrophy. Stereological analysis of myocardial atrophy development in conditions of full starvation determined the main regulated indices, these are the absolute total myofibril mass and mitochondrial mass and surface area.

Animals↗

Parapapillary chorioretinal atrophy in normal and glaucoma eyes. II. Correlations.

The parapapillary chorio-pigment-epithelio-retinal atrophy in glaucomatous eyes is significantly larger than in normal eyes. In a previous study its area and frequency have been measured in 582 eyes of 321 patients with chronic primary open-angle glaucoma and in 390 eyes of 231 normal subjects. In the current study the parapapillary changes were correlated with intrapapillary morphometric data and with perimetric indices. The parapapillary chorioretinal atrophy was significantly correlated with the neuroretinal rim area, the horizontal and vertical cup/disc ratios, the quotient of horizontal to vertical cup/disc ratio, the retinal nerve fiber layer score, and the mean visual field loss. It was larger in the same sector where the neuroretinal rim loss was more marked. The correlation coefficients were generally higher for zone "Beta," characterized by complete chorioretinal atrophy with visible large choroidal vessels and sclera, than for zone "Alpha," which showed irregular hypo- and hyperpigmentation. The parapapillary chorioretinal atrophy was correlated in location and time with the intrapapillary glaucomatous changes. It deserves attention in glaucoma diagnosis and follow-up. Its evaluation is especially valuable in eyes with small optic nerveheads (disc size less than 1.6 mm2) in which the intrapapillary glaucomatous changes occur later than the parapapillary ones.

Adolescent↗

[Cerebral atrophy and chronic alcoholism].

Fifty chronic alcoholic male patients, were investigated to determine characteristics of alcohol intoxication, neurologic and hepatic complications and degree of cerebral atrophy by CT. CT imaging criteria for definition of alcoholic cerebral atrophy are proposed, discussed and compared with those previously reported. Findings showed that alcoholic cerebral atrophy is added to atrophy due to age and is in correlation with the duration of intoxication. It appears after 40 years of age and increases progressively in parallel with polyneuropathy, cerebellar disorders and dementia. It appears to progress independently of the hepatic lesions.

Aged↗