muscle hypotonia/atrophy

Sábháiltear an nasc chuig an gearrthaisce

Roghnaigh cineál sórtála

Leathanach 1 ó 823 torthaí

Clinical decision making in hypotonia and gross motor delay: a case report of type 1 spinal muscular atrophy in an infant.

Ní féidir ach le húsáideoirí cláraithe ailt a aistriú

Logáil Isteach / Cláraigh

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?

Ní féidir ach le húsáideoirí cláraithe ailt a aistriú

Logáil Isteach / Cláraigh

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].

Ní féidir ach le húsáideoirí cláraithe ailt a aistriú

Logáil Isteach / Cláraigh

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].

Ní féidir ach le húsáideoirí cláraithe ailt a aistriú

Logáil Isteach / Cláraigh

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.

Ní féidir ach le húsáideoirí cláraithe ailt a aistriú

Logáil Isteach / Cláraigh

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.

Ní féidir ach le húsáideoirí cláraithe ailt a aistriú

Logáil Isteach / Cláraigh

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.

Ní féidir ach le húsáideoirí cláraithe ailt a aistriú

Logáil Isteach / Cláraigh

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.

Ní féidir ach le húsáideoirí cláraithe ailt a aistriú

Logáil Isteach / Cláraigh

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.

Ní féidir ach le húsáideoirí cláraithe ailt a aistriú

Logáil Isteach / Cláraigh

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.

Ní féidir ach le húsáideoirí cláraithe ailt a aistriú

Logáil Isteach / Cláraigh

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].

Ní féidir ach le húsáideoirí cláraithe ailt a aistriú

Logáil Isteach / Cláraigh

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.

Ní féidir ach le húsáideoirí cláraithe ailt a aistriú

Logáil Isteach / Cláraigh

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].

Ní féidir ach le húsáideoirí cláraithe ailt a aistriú

Logáil Isteach / Cláraigh

Congenital hypotonia due to myosin degeneration.

Ní féidir ach le húsáideoirí cláraithe ailt a aistriú

Logáil Isteach / Cláraigh

Nemaline (neuro) myopathy. Rod-like bodies and type I fibre atrophy in a case of congenital hypotonia with denervation.

Ní féidir ach le húsáideoirí cláraithe ailt a aistriú

Logáil Isteach / Cláraigh

Roimhe seo
1
2
3
4
5
6
...
54
55
Ar Aghaidh

Bí ar ár
leathanach facebook

Herbal & Natural Medicine

An bunachar luibheanna míochaine is iomláine le tacaíocht ón eolaíocht

Oibreacha i 55 teanga
Leigheasanna luibhe le tacaíocht ón eolaíocht
Aitheantas luibheanna de réir íomhá
Léarscáil GPS idirghníomhach - clibeáil luibheanna ar an láthair (ag teacht go luath)
Léigh foilseacháin eolaíochta a bhaineann le do chuardach
Cuardaigh luibheanna míochaine de réir a n-éifeachtaí
Eagraigh do chuid spéiseanna agus fanacht suas chun dáta leis an taighde nuachta, trialacha cliniciúla agus paitinní

Clóscríobh symptom nó galar agus léigh faoi luibheanna a d’fhéadfadh cabhrú, luibh a chlóscríobh agus galair agus comharthaí a úsáidtear ina choinne a fheiceáil.
* Tá an fhaisnéis uile bunaithe ar thaighde eolaíoch foilsithe