Cases reported • Muscular Dystrophies; Muscular Dystrophy

11/52. Childhood onset oculopharyngeal muscular dystrophy.

Oculopharyngeal muscular dystrophy is an inherited disorder, usually autosomal dominant, which typically becomes symptomatic during the fifth decade of life with slowly progressive ptosis and dysphagia; childhood onset has not been reported. A 13-year-old female of French-Canadian descent developed nasal speech and strabismus at 5 years of age; there was no family history of neuromuscular disease. Ptosis and mild facial and proximal muscle weakness were present by 9 years of age. Over the next 4 years, the patient developed dysphagia, palatal paralysis, weight loss, decreased ocular motility, scoliosis, shortness of breath, and obstructive apnea. tracheostomy and gastrostomy were required. creatine kinase and repetitive facial nerve stimulation were normal. edrophonium testing was negative and electromyography revealed myopathic motor units in the iliopsoas muscle. A preponderance of type I fibers and scattered atrophic and angulated muscle fibers were present in 3 muscle biopsies. The clinical presentation and findings are consistent with childhood onset oculopharyngeal muscular dystrophy.

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12/52. Benign muscular dystrophy with autosomal dominant inheritance.

A slowly progressive myopathy was discovered in a family in four successive generations. Eight patients (four female, four male) from three generations were examined and they showed muscle weakness affecting predominantly proximal, but also distal, muscles. Two patients had unequivocal findings in childhood, the others showed myopathy in their twenties or thirties. Working ability was lost in physically demanding jobs in the thirties, but activities of daily living were still preserved. elbow contractures, tight heel cords and contractures of the interphalangeal joints were frequent. serum CK activity was usually mildly elevated and electromyographic examinations revealed myopathic changes. Histopathological changes were compatible with moderately advanced muscular dystrophy in two patients, the six others had mild myopathic changes.

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13/52. A Japanese family with two types of muscular dystrophy: dna analysis and the dystrophin test.

A unique Japanese family with both Fukuyama type congenital muscular dystrophy (FCMD) and Duchenne muscular dystrophy (DMD) is described. Four boys, all from the sixth generation of the same family, were afflicted with severe neuromuscular diseases beginning in early life, three of them presenting the typical phenotype of FCMD and one, that of DMD. Although dna analysis by Southern blotting with complementary DNAs representing the whole of the dystrophin coding sequence detected neither gross deletions nor duplications, immunohistochemistry and Western blotting of the biopsied skeletal muscle with an antidystrophin monoclonal antibody (dystrophin test) showed that the approximately 400-kd dystrophin was expressed normally at the sarcoplasmic membrane of the FCMD phenotype patient but was completely absent in the DMD phenotype patient. From these results, it was presumed that two different childhood muscular dystrophies, FCMD and DMD, coexisted in this family. This unique case illustrates the efficacy of the dystrophin test in the differential diagnosis of the two diseases even when conventional means of diagnosis do not give definite answers and dna analysis of the dystrophin gene is not informative.

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14/52. dystrophin analysis in the differential diagnosis of autosomal recessive muscular dystrophy of childhood and Duchenne muscular dystrophy.

We report 2 patients with childhood autosomal recessive muscular dystrophy. Both patients had slight muscle weakness without enlargement of the calf muscles or involvement of the facial muscles. Their clinical courses are static. Muscle histology revealed characteristic features of muscular dystrophy. dystrophin was identifiable in the sarcolemma of both patients by immunocytochemical staining with an antidystrophin antibody. At an early age, immunocytochemical analysis with antidystrophin antibody was useful in distinguishing between childhood autosomal recessive and Duchenne muscular dystrophies.

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15/52. Familial myopathy with scapulohumeral distribution, rigid spine, cardiopathy and mitochondrial abnormality.

A 37-year-old woman with scapulohumeral muscular atrophy, rigid spine and cardiopathy is reported. muscle weakness, advanced atrioventricular block and contractures at the neck, elbows and ankles had occurred during her childhood. An autosomal dominant mode of inheritance was suggested because her mother, sister and brother had the same disorder. Pleomorphic mitochondria had accumulated in the subsarcolemmal space of the skeletal muscle. There was no evident enzyme defect in the mitochondrial electron transport system. Although the clinical features had some similarity with those of Emery-Dreifuss muscular dystrophy or rigid spine syndrome, the pattern of inheritance and the muscle pathology differed.

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16/52. Benign congenital muscular dystrophy with autosomal dominant heredity: problems of classification.

A family with autosomal dominant congenital muscular dystrophy affecting members of both sexes in three generations is described; a father and his two sons were studied. The onset of symptoms was in early childhood and progression, if any, was slow. The proximal limb muscles, the sternocleidomastoid and anterior tibial muscles were affected. One patient had torticollis and all had heel-cord shortening. An electrophysiological examination showed myopathy. There was no cardiomyopathy. creatine kinase (CK) was elevated, and a histological study revealed a necrotizing myopathy with pronounced regeneration and formation of aberrant myofibrils (ringbinden) and fibrosis.

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17/52. Emery-Dreifuss syndrome.

A young adult male is described with muscular dystrophy of probable X-linked recessive inheritance. An onset of muscle weakness in late adolescence was preceded by contractures of the neck and elbows dating back to childhood. The distribution of muscle weakness was proximal in the upper limbs and both proximal and distal in the lower. The mixed pattern of muscle involvement in the legs favours the view that cases of Emery-Dreifuss muscular dystrophy with proximal weakness in both the upper and lower limbs and X-linked scapuloperoneal muscular dystrophy represent the same disorder. A muscle biopsy in the present case showed unique appearances.

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18/52. Autosomal dominant humeroperoneal myopathy.

Emery-Dreifuss muscular dystrophy is a syndrome with five salient features: early and unusual contractures; humeroperoneal muscle wasting; the slow progression of weakness, beginning in childhood; cardiac conduction defects; and X-linked inheritance. We present two cases and detail other reports with a similar constellation of findings with apparent autosomal dominant inheritance. We postulate separate genetic disorders with similar phenotypic expression.

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19/52. electroretinography in the evaluation of childhood myotonic dystrophy.

electroretinography (ERG) may provide laboratory support for the diagnosis of childhood myotonic dystrophy. The sensitivity of ERG may exceed that of electromyography for early detection of the disease. The electroretinographic abnormalities are not specific for myotonic dystrophy.

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20/52. Retinal telangiectasis in facioscapulohumeral muscular dystrophy with deafness.

A 22-year-old patient with newly diagnosed facioscapulohumeral (FSH) muscular dystrophy had a macular lesion in her right eye and poor central vision, which had been present since early childhood. Fluorescein angiographic examination revealed bilateral peripheral vessel closure, peripheral retinal telangiectasis, and hyperfluorescence in both foveae. This widespread vascular abnormality was deemed responsible for her macular disease. Her mother, brother, and sister, all of whom are affected by varying degrees of FSH muscular dystrophy and clinical deafness, also have abnormal retinal vasculature, as determined by fluorescein angiography. However, none had related visual symptoms and two showed no ophthalmoscopic evidence of vascular abnormalities. In young patients with unexplained retinal vascular lesions, the diagnosis of FSH muscular dystrophy should be considered. Similarly, young patients with FSH muscular dystrophy should be examined for sight-threatening and potentially treatable vascular retinopathy.

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