Eine neue x-chromosomale Muskeldystrophie

Becker, P. E.; Kiener, F.

doi:10.1007/bf00343141

Cited by 189 publications

(46 citation statements)

References 8 publications

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“…Pregnancy and birth were unremarkable. His family history showed no specific Becker,26 spinal muscular atrophy, and congenital muscle dystrophy27) could give rise to confusion with the rigid spine syndrome in that they all cause early contractures and also a rigid spine, but also in progressive muscular dystrophy the rigid spine syndrome has been described. For the differential diagnosis of the rigid spine syndrome the following criteria seem to be important: clinically: the distribution of muscular pathology.…”

mentioning

confidence: 99%

The rigid spine syndrome.

Munster¹,

Joosten²,

Munster-Uijtdehaage³

et al. 1986

Journal of Neurology, Neurosurgery & Psychiatry

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SUMMARY Four patients are reported, 3 females and 1 male, with (as a prominent symptom of muscle disease) limitation of flexion of cervical and dorsolumbar spine. The nosological classification of these cases is discussed. In two patients there was evidence of an inclusion body myositis. At necropsy one of these patients had a remarkable distribution of muscle changes.The rigid spine syndrome is an unusual muscular disorder first described in 1965 by Dubowitz,' and later on by the same author2-4 and several others. decreased and she tended to walk on her toes. By age 12 years, there was an apparent rigidity of the spine, and she had difficulty going upstairs. Her body weight decreased. Limitation of neck-and back-flexion progressed slowly over the next years. Lumbar lordosis was exaggerated to 1120 at the age of 19 years. Gradually, respiratory capacity became impaired, partly because of extreme flattening of her chest; the midsagittal diameter from spine to sternum and from spine to abdominal wall was only 4 5 cm (fig 1). Muscle weakness in arms and legs was not apparently progressive. Her intelligence was normal and there was no family history.Examination revealed a very thin girl with acrocyanosis, a deformed very flat chest, winged shoulders and rigid spine with striking flxed lordosis (fig 2). Anteflexion of the cervical and lumbar spine was nearly impossible, while extension, rotation and lateral flexion were also already limited. There were flexion contractures of hips, knees and feet. The extremity weakness was moderate, more proximal than distal, while pelvic girdle muscles were more affected than shoulder girdle muscles. There was no gross atrophy. Respiratory movements of the chest were not strong and with little excursion. Tendon reflexes were symmetrically sluggish. There were no sensory abnormalities.Radiological examination of the spine revealed a slight thoracic left convex scoliosis of 100. Lateral radiographs showed a striking cervical and lumbar hyperlordosis. No ankylosis or destructive lesions were noted, or osseous pathology, ECG was initially normal, later on right axis deviation was seen.Laboratoryfindings: CK levels were increased (about 3 to 5 times normal levels) at several occasions. Routine blood and urine examination was normal. There was no evidence of specific infections. Alpha-glucosidase activity in leucocytes was normal. Karyotyping of leucocytes showed no abnormalities (no XO anomaly). Respiratory function tests revealed a restrictive defect (vital capacity 1-350 1; normal 4.400 1). EMG of the erector spinae muscle showed a myopathic pattern. Motor and sensory conduction were normal.Muscle biopsy findings (see table 1): The first biopsy was on the quadriceps muscle at age 16. At age 19, a biopsy specimen was taken from the erector trunci muscle. Light microscopy of both specimens was similar, but the second 1292

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confidence: 99%

The rigid spine syndrome.

Munster¹,

Joosten²,

Munster-Uijtdehaage³

et al. 1986

Journal of Neurology, Neurosurgery & Psychiatry

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“…In 1955, Peter Emil Becker recognized a benign form of X-linked muscular dystrophy characterized by later onset than in the Duchenne type, a slow course of disease and slightly decreased average life expectancy [3]. In 1961, Dreifuss and Hogan reported on a large four-generational family in which muscle dystrophy only occurred in 8 males.…”

Section: Edmd1 (Emerinopathy): Historical Remarks Clinical Presentatmentioning

confidence: 99%

Emery-Dreifuss muscular dystrophy: the most recognizable laminopathy

Madej-Pilarczyk¹,

Kochański²

2016

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A b s t r a c t Emery-Dreifuss muscular dystrophy (EDMD), a rare inherited disease, is characterized clinically by humero-peroneal muscle atrophy and weakness, multijoint contractures, spine rigidity and cardiac insufficiency with conduction defects. There are at least six types of EDMD known so far, of which five have been associated with mutations in genes encoding nuclear proteins. The majority of the EDMD cases described so far are of the emerinopathy (EDMD1) kind, with a recessive X-linked mode of inheritance, or else laminopathy (EDMD2), with an autosomal dominant mode of inheritance. In the work described here, the authors have sought to describe the history by which EDMD came to be distinguished as a separate entity, as well as the clinical and genetic characteristics of the disease, the pathophysiology of lamin-related muscular diseases and, finally, therapeutic issues, prevention and ethical aspects.

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“…of the four, Peter Becker was already famous for his studies on muscular dystrophy, especially of a type of Duchenne muscular dystrophy, also X-linked, but milder and with a longer life expectancy (Becker muscular dystrophy, Becker & kiener 1955). Born in hamburg in 1908, Becker had studied medicine at several universities in Germany and austria and graduated in 1933. his early career is clouded and his life has not been without controversy (Becker 1985;hill 2013).…”

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confidence: 99%

Myotonic diseases since Asmus Julius Thomas Thomsen (1815–1896) and Peter Emil Becker (1908–2000)

Bretag¹

2015

Proc. R. Soc. Vic.

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Julius thomsen first published his account of myotonia (an unusual muscle stiffness disorder) in himself and his family in 1876. By november 1971, Peter Becker was already famous for his eponymous Becker muscular dystrophy when he came to the second international congress on Muscle Diseases, in Perth. there, he presented an extensive study of myotonia, recognising a recessively inherited disease (now known as Becker's recessive generalised myotonia), distinct from thomsen's myotonia congenita and clearly distinguishable from steinert's myotonic dystrophy, both dominantly inherited. Peter Becker, shirley Bryant, reinhardt rüdel and allan Bretag all met in Perth, with mutual interests in myotonia. they subsequently maintained contact while Bretag undertook research in Germany in 1972-1973 and 1977. later, in 1978, Bretag worked with Bryant's myotonic goats in cincinnati. his research on thomsen's and Becker's myotonias has since progressed to confirmation of Bryant's chloride hypothesis through a molecular genetic study of the muscle chloride channel, clc-1. this has culminated in several collaborative papers with German colleagues and, finally, in a mechanistic description of how the clc-1 channel is gated.

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Eine neue x-chromosomale Muskeldystrophie

Cited by 189 publications

References 8 publications

The rigid spine syndrome.

The rigid spine syndrome.

Emery-Dreifuss muscular dystrophy: the most recognizable laminopathy

Myotonic diseases since Asmus Julius Thomas Thomsen (1815–1896) and Peter Emil Becker (1908–2000)

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