Congenital familial hypertonia.

Clin Pediatr (Phila)

Women and Infants Hospital of Rhode Island, Rhode Island Hospital, Rhode Island, USA.

Published: September 2002

1. This complex of symptoms appears to be congenital, familial, and hereditary. It is apparently transmitted by a dominant gene, probably on chromosome 5. 2. Hypertonicity with rigidity of all voluntary muscles usually presents at birth. 3. Feeding problems are due to dysphagia or laryngospasm associated with aspiration and dyspnea. 4. Respiratory problems are characterized by apneic episodes due to muscle spasm. 5. Prolonged episodes of muscular rigidity secondary to sudden stimuli result in frequent falls, characteristically en bloc, like a statue. 6. Continuous electromyographic activity even at rest (with absence of fasciculations) improves after intravenous diazepam.

Download full-text PDF

Source
http://dx.doi.org/10.1177/000992280204100713DOI Listing

Publication Analysis

Top Keywords

congenital familial
8
familial hypertonia
4
hypertonia complex
4
complex symptoms
4
symptoms appears
4
appears congenital
4
familial hereditary
4
hereditary transmitted
4
transmitted dominant
4
dominant gene
4

Similar Publications

Background/aim: Congenital anomalies of the kidney and urinary tract (CAKUT) are characterized by renal developmental disorders in the embryonic period. STAT3 is a member of the STAT protein family. The members of this protein family play roles in various cellular mechanisms, such as the early stages of embryonic development, kidney development, and renal diseases.

View Article and Find Full Text PDF

Background: In middle-income countries, healthcare systems face unique challenges in ensuring timely antenatal detection of congenital abnormalities that require pediatric surgical intervention. Early detection can significantly improve outcomes, yet resource constraints often limit access to diagnostic technologies. This study evaluates the antenatal detection rate of congenital abnormalities referred to pediatric surgical services in three Malaysian tertiary centers and examines its effect on maternal anxiety.

View Article and Find Full Text PDF

Background: Aicardi-Goutières Syndrome is a monogenic type 1 interferonopathy with infantile onset, characterized by a variable degree of neurological damage. Approximately 7% of Aicardi-Goutières Syndrome cases are caused by pathogenic variants in the ADAR gene and are classified as Aicardi-Goutières Syndrome type 6. Here, we present a new homozygous pathogenic variant in the ADAR gene.

View Article and Find Full Text PDF

Vascular Ehlers-Danlos syndrome (vEDS) is a rare inherited connective tissue disorder predominantly caused by pathogenic COL3A1 variants. Characteristic arterial and intestinal fragility and generalised severe tissue friability can lead to clinical events from childhood. We highlight a paucity of literature regarding children diagnosed with vEDS, possibly explained by a restraint in predictive testing, and present data on 63 individuals (23 index cases) with a clinical and genetic diagnosis of vEDS in childhood (<18 years) to address this.

View Article and Find Full Text PDF

Introduction: Posterior urethral valve (PUV) is a congenital condition marked by obstructing persistent urogenital membrane, leading to urinary tract infections, bladder dysfunction, and kidney damage. It affects males only, mostly suspected antenatally and confirmed in early infancy. It requires early diagnosis and intervention to prevent long-term complications.

View Article and Find Full Text PDF

Want AI Summaries of new PubMed Abstracts delivered to your In-box?

Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!