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muscle hypotonia/atròfia
L'enllaç es desa al porta-retalls
Pàgina 1 des de 823 resultats
Clinical decision making in hypotonia and gross motor delay: a case report of type 1 spinal muscular atrophy in an infant.
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OBJECTIVE
Children often are referred for physical therapy with the diagnosis of hypotonia when the definitive cause of hypotonia is unknown. The purpose of this case report is to describe the clinical decision-making process using the Hypothesis-Oriented Algorithm for Clinicians II (HOAC II) for an
Microcephaly, microphthalmia, congenital cataract, optic atrophy, short stature, hypotonia, severe psychomotor retardation, and cerebral malformations: a second family with micro syndrome or a new syndrome?
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We report on four children of both sexes from a highly inbred family with hypotonia, spastic diplegia, microcephaly, microphthalmia, congenital cataract, optic atrophy, ptosis, kyphoscoliosis, short stature, severe mental retardation, and cerebral malformations. Six other children may also have been
[Spinal muscular atrophy: frequent cause of congenital hypotonia in Morocco].
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BACKGROUND
Congenital hypotonia is a non specific symptom frequently seen in newborns and infants, and whose etiological diagnosis is often difficult due to the lack of specialized and affordable explorations. Childhood-onset proximal spinal muscular atrophy (SMA) is an autosomal recessive disorder
[Mixed hypotonia, neurological regression and atrophy of the cerebellum: manifestations that suggest infantile neuroaxonal dystrophy].
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BACKGROUND
Infantile neuroaxonal dystrophy (INAD), or Seitelberger disease, is a neurodegenerative disease of unknown origin which is transmitted by autosomal recessive inheritance. Clinically, it courses with psychomotor stagnation and regression that begins at the age of one or two years,
Exome sequencing identifies a de novo SCN2A mutation in a patient with intractable seizures, severe intellectual disability, optic atrophy, muscular hypotonia, and brain abnormalities.
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Epilepsy is a phenotypically and genetically highly heterogeneous disorder with >200 genes linked to inherited forms of the disease. To identify the underlying genetic cause in a patient with intractable seizures, optic atrophy, severe intellectual disability (ID), brain abnormalities, and muscular
Recessive mutations in ATP8A2 cause severe hypotonia, cognitive impairment, hyperkinetic movement disorders and progressive optic atrophy.
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BACKGROUND
ATP8A2 mutations have recently been described in several patients with severe, early-onset hypotonia and cognitive impairment. The aim of our study was to characterize the clinical phenotype of patients with ATP8A2 mutations.
METHODS
An observational study was conducted at multiple
Monoallelic and Biallelic Variants in EMC1 Identified in Individuals with Global Developmental Delay, Hypotonia, Scoliosis, and Cerebellar Atrophy.
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The paradigm of a single gene associated with one specific phenotype and mode of inheritance has been repeatedly challenged. Genotype-phenotype correlations can often be traced to different mutation types, localization of the variants in distinct protein domains, or the trigger of or escape from
Bi-allelic Variants in the GPI Transamidase Subunit PIGK Cause a Neurodevelopmental Syndrome with Hypotonia, Cerebellar Atrophy, and Epilepsy.
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Glycosylphosphatidylinositol (GPI)-anchored proteins are critical for embryogenesis, neurogenesis, and cell signaling. Variants in several genes participating in GPI biosynthesis and processing lead to decreased cell surface presence of GPI-anchored proteins (GPI-APs) and cause inherited GPI
PIGN mutations cause congenital anomalies, developmental delay, hypotonia, epilepsy, and progressive cerebellar atrophy.
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Defects of the human glycosylphosphatidylinositol (GPI) anchor biosynthetic pathway show a broad range of clinical phenotypes. A homozygous mutation in PIGN, a member of genes involved in the GPI anchor-synthesis pathway, was previously reported to cause dysmorphic features, multiple congenital
Characteristic clinical findings in some neurogenic myopathies and in some myogenic myopathies causing muscular weakness, hypotonia and atrophy in infancy and early childhood.
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Some conditions causing neurogenic or myogenic myopathy are reviewed and illustrated by cases of 1) perinatal cervical cord injury; 2) various types of progressive spinal muscular atrophy and 3) congenital muscular dystrophy, Duchenne-like type of muscular dystrophy, limb-girdle type of muscular
[Differential diagnosis in early muscular hypotonia: spinal atrophy].
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Changes in type, size and structure of muscle fibres were analyzed in 68 biopsies with clinical and morphological signs of spinal atrophy. Reliability of clinical prebioptic diagnosis was evaluated in comparison with bioptic finding and final diagnosis. Muscle biopsy is often to be performed in
Failure to thrive, hepatic dysfunction, hypotonia, and cerebellar atrophy.
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A 2-year-old with cerebrellar and gastrointestinal difficulties is presented. The differential diagnosis of this combination of clinical features is difficult but recently several of the conditions under consideration have been more precisely characterized from a molecular standpoint.
[A newborn infant with hypotonia and tongue fasciculations: it is not always spinal muscular atrophy].
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Congenital hypotonia due to myosin degeneration.
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Nemaline (neuro) myopathy. Rod-like bodies and type I fibre atrophy in a case of congenital hypotonia with denervation.
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