Results 151 to 160 of about 21,194 (199)

Congenital muscular dystrophies

Seminars in Pediatric Neurology, 2002
The number of new syndromes, loci, and genes responsible for CMD forms has dramatically increased in the last few years, and it has become increasingly evident that the classification of the different forms of CMD is a difficult task. A recent classification separated the forms of CMD that have been mapped (CMD diseases) from the ones with clearly ...
Eugenio, Mercuri, Caroline, Sewry, Susan C, Brown, Francesco, Muntoni   +3 more
openaire   +2 more sources

Congenital muscular dystrophy with syringomyelia

Pediatric Neurology, 1994
We report a 7-year-old boy with congenital muscular dystrophy with severe spinal deformation and low thoracic syringomyelia, which may represent a novel form of the disease with muscle involvement and spinal cord anomaly. We suggest that patients with congenital muscular dystrophy who manifest skeletal anomalies undergo spinal magnetic resonance ...
Parano E, Falsaperla R, Pavone V, Trifiletti RR   +3 more
openaire   +5 more sources

Congenital Muscular Dystrophies and Congenital Myopathies

Continuum, 2013
The purpose of this review is to provide information regarding the diagnosis and natural history of some very rare disorders: congenital muscular dystrophies and congenital myopathies. Patients with these conditions share characteristics such as early onset of weakness and severe hypotonia. Other organs such as the brain, eyes, and skin may be involved.
Susan T, Iannaccone, Diana, Castro
openaire   +2 more sources

Congenital muscular dystrophies

2011
Congenital muscular dystrophies (CMDs) are a heterogeneous group of disorders characterized by muscle weakness from birth, or shortly after, and variable clinical manifestations of the eye and central nervous system. Some of these disorders are fatal in the first years of life, whereas others have a milder course, with survival into adulthood. The CMDs
Susan E, Sparks, Diana M, Escolar
openaire   +2 more sources

Congenital myopathies and congenital muscular dystrophies

Current Opinion in Neurology, 2001
Congenital myopathies and congenital myopathic dystrophies are distinct groups of inherited diseases of muscle, genetically heterogeneous, that manifest in early life or infancy. Congenital myopathic dystrophy is characterized by a dystrophic pattern, whereas no necrotic or degenerative changes are present in congenital myopathies.
N, Tubridy, B, Fontaine, B, Eymard
openaire   +2 more sources

Congenital muscular dystrophies in China

Clinical Genetics, 2019
AbstractCongenital muscular dystrophies (CMDs) are clinically and genetically heterogeneous conditions. We launched a nationwide study to determine the frequency of CMD in the Chinese population and assess the status of diagnosis and disease management for CMD in China.
Lin, Ge, Cheng, Zhang, Zhaoxia, Wang, Sophelia H S, Chan, Wenhua, Zhu, Chunxi, Han, Xiaoli, Zhang, Hong, Zheng, Liwen, Wu, Bo, Jin, Jingli, Shan, Bing, Mao, Jianmin, Zhong, Xiaoyin, Peng, Yaying, Cheng, Jun, Hu, Yan, Sun, Junlan, Lu, Ying, Hua, Sainan, Zhu, Cuijie, Wei, Shuo, Wang, Hui, Jiao, Haipo, Yang, Xiaona, Fu, Yanbin, Fan, Xingzhi, Chang, Shuang, Wang, Xinhua, Bao, Yuehua, Zhang, Jingmin, Wang, Ye, Wu, Yuwu, Jiang, Yun, Yuan, Anne, Rutkowski, Carsten G, Bönnemann, Wei, Wei, Xiru, Wu, Hui, Xiong   +38 more
openaire   +2 more sources

A form of congenital muscular dystrophy

Brain and Development, 1980
Five children, between 2 and 10 years old, 3 boys and 2 girls, two of them siblings, showed mild clinical and morphological congenital muscular dystrophy. Neuromuscular signs and symptoms being present from birth or early infancy, aggravated only insignificantly during the course of the disease.
H H, Goebel, H G, Lenard, U, Langenbeck, B, Mehl   +3 more
openaire   +2 more sources

Severe Congenital Muscular Dystrophy

Archives of Pediatrics & Adolescent Medicine, 1967
THE history of amyotonia congenita exemplifies impressively how diagnostic inaccuracy hinders scientific progress. Lack of appropriate laboratory tests, clinical follow-ups, and pathological documentation confused the semantics of neonatal and infantile hypotonia for decades.
H, Zellweger, A, Afifi, W F, McCormick, W, Mergner   +3 more
openaire   +2 more sources

A variant of congenital muscular dystrophy

Brain and Development, 2002
We analyzed three Japanese patients (two boys and a girl) from two families with congenital muscular dystrophy (CMD) and brain involvement. One of the two families had two affected siblings of different sexes. Parental consanguinity was not documented in either family.
Mieko, Yoshioka, Shigekazu, Kuroki, Hiroshi, Sasaki, Kiyoshi, Baba, Tatsushi, Toda   +4 more
openaire   +2 more sources

Congenital muscular dystrophies

2001
Abstract The clinical diversity of CMD is suggested by the different degrees of motor develop- mental delay, physical disability and muscle pathology, and by the variable presence of mental retardation. Most of the efforts aimed at delineating and subdividing the various CMD forms have originated from the International Consortium on CMD,
Eugenio Mercuri, Francesco Muntoni
openaire   +1 more source