Results 231 to 240 of about 8,309 (264)

Ventilatory support in facioscapulohumeral muscular dystrophy

Neurology, 2004
Respiratory insufficiency due to respiratory muscle weakness is a common complication of many neuromuscular diseases. The prevalence of respiratory failure in facioscapulohumeral muscular dystrophy (FSHD) is unknown. The authors identified 10 FSHD patients on nocturnal ventilatory support at home, representing approximately 1% of the Dutch FSHD ...
Wohlgemuth, M., Kooi, E.L. van der, Kesteren, R.G. van, Maarel, S.M. van der, Padberg, G.W.A.M.   +4 more
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Facioscapulohumeral muscular dystrophy

Current Opinion in Neurology, 1999
A decade's progress in facioscapulohumeral muscular dystrophy genetics has been marked by the discovery of novel genetic phenomena such as crossover of subtelomeric DNA between chromosomes 4 and 10 in normal individuals and by the recognition that the facioscapulohumeral muscular dystrophy deletion-mutation may cause a position variegation effect on ...
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SCAPULOTHORACIC FUSION FOR FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY

The Journal of Bone and Joint Surgery-American Volume, 2005
Facioscapulohumeral muscular dystrophy causes winging of the scapula and weakness and discomfort of the shoulder. Surgical stabilization of the scapula to the posterior part of the chest wall permits shoulder abduction and flexion by the deltoid muscle.
Frederic Shapiro, Mohammad Diab, Basil T. Darras   +2 more
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Diagnostic challenges in facioscapulohumeral muscular dystrophy

Neurology, 2006
The diagnosis of facioscapulohumeral muscular dystrophy (FSHD) can be difficult due to its clinical variability and complex genetic cause. We present three challenging cases: one misdiagnosis of FSHD, one patient with FSHD resembling mitochondrial myopathy, and one patient with combined FSHD and limb girdle muscular dystrophy 2A.
SACCONI S, SALVIATI, LEONARDO, BOURGET I, FIGARELLA D, PEREON Y, LEMMERS R, VAN DER MAAREL S, DESNUELLE C.   +7 more
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Molecular basis of facioscapulohumeral muscular dystrophy

Cellular and Molecular Life Sciences (CMLS), 2004
Facioscapulohumeral muscular dystrophy (FSHD), the third most common myopathy, is an autosomal dominant disease with an insidious onset and progression. Almost all FSHD patients carry deletions of an integral number of tandem 3.3 kb repeats, termed D4Z4, located on chromosome 4q35.
TUPLER, Rossella, GABELLINI D.
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Job perspectives in facioscapulohumeral muscular dystrophy

Disability and Rehabilitation, 1993
The working career of 138 adult patients with autosomal dominant facioscapulohumeral muscular dystrophy (FSHD) was studied using a mailing questionnaire. Of 126 patients with an occupational history, the average female and male working career was 15 to 30 years, respectively.
Wevers, C.W.J., Brouwer, O.F., Padberg, G.W., Nijboer, I.D.   +3 more
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Facioscapulohumeral Muscular Dystrophy

American Journal of Physical Medicine & Rehabilitation, 1995
Data were collected prospectively over a 10-yr period from 53 subjects with facioscapulohumeral muscular dystrophy (FSHD) to provide a profile of impairment and disability. Manual muscle testing (MMT) indicated greater involvement of proximal musculature, although a subgroup demonstrated early weakness of the ankle dorsiflexors.
Megan A. McCrory, David D. Kilmer, Richard T. Abresch, E. R. Johnson, Craig M. McDonald, Gregory T. Carter, William M. Fowler   +6 more
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Mobius Syndrome and Facioscapulohumeral Muscular Dystrophy

Archives of Neurology, 1971
CONGENITAL facial diplegia, or Mobius syndrome, is usually considered to be a static disorder. Recently, however, there have been reports of myotonic dystrophy presenting with facial weakness in the newborn period. 1,2 ; some cases of Mobius syndrome may therefore be due to progressive disease.
Lewis P. Rowland, Peggy A. Hanson
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Molecular genetics of facioscapulohumeral muscular dystrophy

Neuromuscular Disorders, 1993
Facioscapulohumeral muscular dystrophy (FSHD) is an autosomal dominant neuromuscular disorder. The disease affects specific muscles of the face, shoulder-girdle and upper arm. The biochemical defect underlying FSHD is unknown and there are no specific tests that are diagnostic of FSHD.
Marten H. Hofker, Michel van Geel, Cisca Wijmenga, Tracy J. Wright, Rune R. Frants, Jane E. Hewitt, George W. Padberg, Gert-Jan B. van Ommen, Judith C.T. van Deutekom   +8 more
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Genetic mapping of facioscapulohumeral muscular dystrophy

1993
Facioscapulohumeral muscular dystrophy (FSHD) is a well described neuromuscular disorder with an autosomal dominant inheritance pattern. The molecular defect underlying FSHD is unknown and lack of biochemical and physiological markers precluded a reliable presymptomatic diagnosis. Therefore, chromosomal localization of the FSHD gene by linkage analysis
George W. Padberg, Rune R. Frants, Marten H. Hofker, Cisca Wijmenga   +3 more
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