Results 181 to 190 of about 1,729 (232)

Molecular Genetic Study of a Childhood Form of Spinal Muscular Atrophy

Journal of Child Neurology, 2001
Molecular genetic studies were performed in 28 cases of childhood-onset spinal muscular atrophy (24 unrelated families). This consisted of type 1 (severe) (n = 5), type 2 (intermediate form) (n = 8), and type 3 (mild) (n = 15). Deletion of exons 7 and 8 of the SMNt gene was found in 100%, 100%, and 93%, respectively, in type 1, 2, and 3 spinal ...
Chan, V, Wong, V
openaire   +3 more sources

Molecular prenatal diagnosis of autosomal recessive childhood spinal muscular atrophies (SMAs)

Gene, 2012
Autosomal recessive childhood spinal muscular atrophy (SMAs) is the second most common neuromuscular disorder and a common cause of infant disability and mortality. SMA patients are classified into three clinical types based on age of onset, and severity of symptoms.
Mona L, Essawi, Ghada M, Al-Attribi, Khaled R, Gaber, Ashraf A, El-Harouni   +3 more
openaire   +2 more sources

Bedside evaluation of large motor units in childhood spinal muscular atrophy

Neurology, 1979
One hundred patients with motor unit disease were examined to determine the diagnostc reliability of several clinical signs of large motor units. These signs were high-intensity, low-pitched rumbling on skeletal muscle auscultation, voluntary contraction fasciculations, contraction fasciculation trembling, and palpable contraction fasciculations. Among
E J, Fredericks, B S, Russman
openaire   +2 more sources

Prenatal prediction of childhood‐onset spinal muscular atrophy (SMA) in Turkish families

Prenatal Diagnosis, 2002
AbstractChildhood‐onset spinal muscular atrophy (SMA) is one of the most common neurodegenerative genetic disorders. SMN1 is the SMA‐determining gene deleted or mutated in the majority of SMA cases. There is no effective cure or treatment for this disease yet. Thus, the availability of prenatal testing is important.
Savas, S, Eraslan, S, Kantarci, S, Karaman, B, Acarsoz, D, Tukel, T, Cogulu, O, Özkınay, F, Basaran, S, Aydinli, K, Yuksel-Apak, M, Kirdar, B   +11 more
openaire   +3 more sources

Use of the ECG in the Diagnosis of Childhood Spinal Muscular Atrophy

Archives of Neurology, 1979
The appearance of tremors in patients with childhood, chronic spinal muscular atrophy has been known for years. We were struck by the presence of a "muscle tremor" artifact in the ECGs of all our patients with this diagnosis. This observation has not been noted previously.
B S, Russman, E J, Fredericks
openaire   +2 more sources

Spinal Muscular Atrophy in Childhood: Review of 50 Cases

Developmental Medicine & Child Neurology, 1978
SUMMARYThe clinical findings in 50 children with intermediate or mild spinal muscular atrophy are reviewed.An early age of onset and the presence of tongue fasciculation carry a poor prognosis for disability. Scoliosis appears early in nearly all children with the more severe forms of spinal muscular atrophy and early energetic treatment is indicated ...
openaire   +2 more sources

Microcephaly and Mental Subnormality in Chronic Progressive Spinal Muscular Atrophy of Childhood

Developmental Medicine & Child Neurology, 1967
SUMMARYA wide variety of clinical manifestations are encountered in the various forms of progressive spinal muscular atrophy of childhood. The family reported here illustrates the relatively slowly progressive form of this disease. The presence of mental subnormality and microcephaly in this family is an unusual finding.Electromyographic and or muscle ...
A J, Spiro, M H, Fogelson, A C, Goldberg
openaire   +2 more sources

Recommendations for the diagnosis and management of typical childhood spinal muscular atrophy

Revue Neurologique, 2012
Typical childhood spinal muscular atrophy is a disease that affects the anterior horn of the spinal cord related to SMN1 gene defects. Since no etiological treatment is currently available, its management is necessarily symptomatic and involves multidisciplinary care.
J-M, Cuisset, B, Estournet
openaire   +2 more sources

Genetic mapping of chronic childhood-onset spinal muscular atrophy to chromosome 5q1 1.2–13.3

Nature, 1990
SPINAL muscular atrophy (SMA) describes a group of heritable degenerative diseases that selectively affect the alpha-motor neuron. Childhood-onset SMAs rank second in frequency to cystic fibrosis among autosomal recessive disorders, and are the leading cause of heritable infant mortality. Predictions that genetic heterogeneity underlies the differences
L. M. Brzustowicz, T. Lehner, L. H. Castilla, G. K. Penchaszadeh, K. C. Wilhelmsen, R. Daniels, K. E. Davies, M. Leppert, F. Ziter, D. Wood, V. Dubowitz, K. Zerres, I. Hausmanowa-Petrusewicz, J. Ott, T. L. Munsat, T. C. Gilliam   +15 more
openaire   +2 more sources

Expression of developmentally regulated cytoskeleton and cell surface proteins in childhood spinal muscular atrophies

Journal of the Neurological Sciences, 1995
Expression of some developmentally regulated cytoskeleton components (desmin, vimentin and myosin heavy chain isoforms) and cell surface proteins (including neural cell adhesion molecule (NCAM), its polysialylated (PSA) isoform and CD24) have been studied by immunohistochemical detection in a series of 23 infantile spinal muscular atrophies (SMA ...
C, Soubrouillard, J F, Pellissier, H, Lepidi, J, Mancini, G, Rougon, D, Figarella-Branger   +5 more
openaire   +2 more sources