Related Experiment Video

Updated: Jul 18, 2026

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
06:41

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila

Published on: August 20, 2019

Hereditary hypotonia, muscle weakness, failure to thrive, and cognitive delay in a large moslem kindred

Miriam Kutai1, Stavit A Shalev, Ilana Chervinski

  • 1Neuropediatric Clinic, Ha-Emek Medical Center, Afula, Israel. kutai@bezeqint.net

Pediatric Neurology
|December 2, 2006
PubMed

Insights

This study details severe developmental delays and failure to thrive in five infants from one family. Despite extensive testing, the cause of these profound neurological and growth issues remains undiagnosed.

Area of Science:

  • Pediatric Neurology
  • Clinical Genetics
  • Developmental Pediatrics

Background:

  • Investigating a rare familial condition presenting with severe failure to thrive and neurological deficits in infants.
  • Focusing on an extended family with multiple affected children to identify potential genetic or environmental factors.

Observation:

  • Observed five infants exhibiting failure to thrive, extreme muscle weakness, severe motor delay, and cognitive/verbal impairment.
  • All infants were below the third percentile for weight and height; three also had microcephaly.
  • Neurological exams showed severe hypotonia, muscle weakness, and absent deep tendon reflexes.

Findings:

  • Two infants expired at two years of age.
  • No affected infants achieved head control or motor milestones like rolling or sitting.
  • Extensive laboratory evaluations, including muscle biopsies, genetic, and metabolic studies, were inconclusive.

Implications:

  • Highlights a severe, undiagnosed pediatric neurodevelopmental disorder within a family.
  • Underscores the need for advanced diagnostic approaches for complex, unexplained pediatric conditions.
  • Suggests potential novel genetic mutations or rare metabolic pathways may be involved.

More Related Videos

Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information09:37

Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information

Published on: August 15, 2019

In Vivo Modeling of the Morbid Human Genome using Danio rerio12:31

In Vivo Modeling of the Morbid Human Genome using Danio rerio

Published on: August 24, 2013

Related Concept Videos

Huntington Disease l: Introduction01:21

Huntington Disease l: Introduction

Huntington disease or HD is a progressive, fatal neurodegenerative disorder inherited in an autosomal dominant pattern.PathophysiologyIt is caused by expansion of the CAG trinucleotide repeat in the HTT gene on chromosome 4 (4p16.3), producing an abnormal huntingtin protein with an expanded polyglutamine tract. This misfolded protein disrupts cellular function, leading to neuronal death. Normal alleles have ≤26 repeats, 27–35 are intermediate (risk of expansion), 36–39 show reduced penetrance,...
Alterations in Muscle Tone lll01:11

Alterations in Muscle Tone lll

Rigidity and myotonia are distinct abnormalities of muscle tone that affect resistance and relaxation during movement. Although both involve altered muscle contraction, they arise from different neurological and muscular mechanisms.CharacteristicsRigidity is characterized by uniform resistance to passive movement across the entire range, independent of speed, affecting flexors and extensors equally. It may appear as lead-pipe rigidity (smooth, constant resistance) or cogwheel rigidity...
Inborn Errors of Metabolism01:20

Inborn Errors of Metabolism

Phenylketonuria (PKU) is a protein metabolism disorder characterized by high blood levels of the amino acid phenylalanine. This results from a mutation in the gene responsible for phenylalanine hydroxylase, an enzyme that converts phenylalanine into tyrosine. When this enzyme is deficient, phenylalanine builds up in the blood, leading to symptoms such as vomiting, rashes, seizures, growth deficiency, and severe mental retardation. An early diagnosis and a diet restricting phenylalanine intake...
Alterations in Muscle Tone ll01:12

Alterations in Muscle Tone ll

Alterations in muscle tone are common manifestations of neurological disorders and reflect dysfunction within different nervous system regions. Spasticity, paratonia, and dystonia represent distinct forms of hypertonia, each with unique mechanisms, clinical features, and diagnostic importance.CharacteristicsSpasticity happens from upper motor neuron lesions and is characterized by velocity-dependent resistance to passive movement. Clinical features include:Exaggerated deep tendon reflexesClonus...
Pleiotropy01:33

Pleiotropy

Pleiotropy is the phenomenon in which a single gene impacts multiple, seemingly unrelated phenotypic traits. For example, defects in the SOX10 gene cause Waardenburg Syndrome Type 4, or WS4, which can cause defects in pigmentation, hearing impairments, and an absence of intestinal contractions necessary for elimination. This diversity of phenotypes results from the expression pattern of SOX10 in early embryonic and fetal development. SOX10 is found in neural crest cells that form melanocytes,...
Disorders of the Skeletal Muscle01:28

Disorders of the Skeletal Muscle

The clinical conditions affecting the skeletal muscle tissue are broadly categorized as musculoskeletal and neuromuscular disorders.
Musculoskeletal disorders
Musculoskeletal disorders involve injuries and conditions affecting the skeletal muscles and associated connective tissues. These disorders can arise from acute biomechanical stresses or chronic overuse and can occur across different age groups. Common injuries include sprains, fractures, and muscular strains, often resulting from...