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Related Concept Videos

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...
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...
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...
Hypothyroidism II: Pathophysiology01:23

Hypothyroidism II: Pathophysiology

Hypothyroidism is a disorder characterized by insufficient production of thyroid hormones, which regulate metabolism, energy balance, and multiple organ systems.TypesHypothyroidism is classified based on the level of dysfunction. Primary hypothyroidism results from intrinsic thyroid gland dysfunction, causing reduced hormone production despite normal or increased stimulation. Secondary hypothyroidism arises from inadequate thyroid-stimulating hormone (TSH) secretion by the pituitary. Tertiary...
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,...

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Related Experiment Video

Updated: May 12, 2026

A Battery of Motor Tests in a Neonatal Mouse Model of Cerebral Palsy
10:02

A Battery of Motor Tests in a Neonatal Mouse Model of Cerebral Palsy

Published on: November 3, 2016

Infantile hypotonia with failure to thrive.

Mohamed Nagiub1, Karen Alton, Premchand Anne

  • 1Department of Pediatrics, St. John Children's Hospital, Detroit, MI, U.S.A.

The American Journal of Case Reports
|April 10, 2013
PubMed
Summary

Pompe disease, a rare genetic disorder, can be identified early through growth monitoring and developmental assessments. Enzyme replacement therapy offers the only medical treatment for this condition.

Keywords:
cardiomegalydevelopmental delayfailure to thrivehypotonia

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Assessment and Evaluation of the High Risk Neonate: The NICU Network Neurobehavioral Scale
19:15

Assessment and Evaluation of the High Risk Neonate: The NICU Network Neurobehavioral Scale

Published on: August 25, 2014

Related Experiment Videos

Last Updated: May 12, 2026

A Battery of Motor Tests in a Neonatal Mouse Model of Cerebral Palsy
10:02

A Battery of Motor Tests in a Neonatal Mouse Model of Cerebral Palsy

Published on: November 3, 2016

Assessment and Evaluation of the High Risk Neonate: The NICU Network Neurobehavioral Scale
19:15

Assessment and Evaluation of the High Risk Neonate: The NICU Network Neurobehavioral Scale

Published on: August 25, 2014

Area of Science:

  • Biochemistry
  • Genetics
  • Pediatrics

Background:

  • Pompe disease, also known as glycogen storage disease type II (GSDII), is a rare inherited metabolic disorder.
  • It is caused by a deficiency in the enzyme acid alpha-glucosidase, leading to the buildup of glycogen in lysosomes.
  • This accumulation primarily affects cardiac and skeletal muscles, with varying severity across different age groups.

Purpose of the Study:

  • To highlight the clinical presentation of infantile Pompe disease.
  • To emphasize the importance of early diagnosis and clinical suspicion.
  • To discuss current treatment options for Pompe disease.

Main Methods:

  • Case report of an infant diagnosed with Pompe disease.
  • Clinical observation of symptoms including hypotonia and failure to thrive.
  • Discussion of diagnostic tools such as growth parameter plotting and developmental screening.

Main Results:

  • The case presented demonstrates infantile Pompe disease identified at a routine four-month well visit.
  • Early detection was facilitated by the presence of key clinical indicators.

Conclusions:

  • Pompe disease diagnosis can be achieved through accurate clinical assessments, including growth monitoring and developmental screening.
  • Enzyme replacement therapy is currently the sole medical intervention available for Pompe disease.
  • A high index of suspicion is crucial for timely diagnosis and management of Pompe disease.