abstract hypotonia is a serious neurologic problem in neonatal period. although hypotonia is a nonspecific clinical finding but it is the most common motor disorder in the newborn. the objective of this study was to determine the frequency of neonatal hypotonia then to ascertain of the most common causes methods this cross –sectional prospective study was carried out on the 3281 term infants ho...

OBJECTIVE Hypotonia is a serious neurologic problem in neonatal period. Although hypotonia is a nonspecific clinical finding but it is the most common motor disorder in the newborn. The objective of this study was to determine the frequency of neonatal hypotonia then to ascertain of the most common causes. MATERIALS & METHODS This cross -sectional prospective study was carried out on the 3281...

Neonatal hypotonia is extremely challenging to diagnose because numerous disorders present similar clinical manifestations. Two panels for diagnosing neonatal hypotonia were developed, which enriches 35 genes corresponding to 61 neonatal hypotonia-related disorders. A cohort of 214 neonates with hypotonia was recruited from 2012 to 2014 in China for this study. Of these subjects, twenty-eight n...

Genetic studies of rare diseases can identify genes of unknown function that strongly impact human physiology. Prolyl endopeptidase-like (PREPL) is an uncharacterized member of the prolyl peptidase family that was discovered because of its deletion in humans with hypotonia-cystinuria syndrome (HCS). HCS is characterized by a number of physiological changes including diminished growth and neonat...

The pre-, periand postnatal history is important. Enquire about the quality and quantity of fetal movements, breech presentation and the presence of either polyor oligohydramnios. The incidence of breech presentation is higher in fetuses with neuromuscular disorders as turning requires adequate fetal mobility. Documentation of birth trauma, birth anoxia, delivery complications, low cord pH and ...

Numerous genetic syndromes present with hypotonia during the neonatal period, including Prader-Willi syndrome, myotonic dystrophy, spinal muscular atrophy, congenital muscular dystrophies, nemaline myopathy, congenital hypomyelinating neuropathy, congenital disorders of glycosylation, and Pompe disease. This article reviews neonatal presentations and appropriate diagnostic tests and examination...

Introduction Cytogenomic analyses play a fundamental role in the detection of genetic disorders patients with developmental delay, and are an excellent diagnostic method. Objective Report case female child delay hypotonia relate existence copy-number variations to understand their contribution appearance phenotype. Methods This is report. Anamnesis, 10 months age at first appointment. Mother re...

AIM Hypotonia is a symptom of diminished tone of skeletal muscle associated with decreased resistance of muscles to passive stretching, which can be caused by abnormalities of the central nervous system, any element of the lower motoneuron, or both. Hypotonia is not a specific diagnosis, but can be part of over 500 different genetic disorders, with many other conditions waiting to be identified...

GENERALIZED NEONATAL HYPOTONIA Summary. Generalized neonatal hypotonia implies a pathologically decreased postural tone involving at least the extremities, trunk and neck occurring during the first month of life. The gestational age of the neonate, the behavioral state of the neonate at the time of the examination, and the possibility of pseudoparalysis (due to generalized pain) should be consi...