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Glucose Transporters01:27

Glucose Transporters

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Glucose transporters facilitate the transport of glucose across the cell membrane. In addition to glucose, some glucose transporters can also aid the movement of other hexoses such as fructose, mannose, and galactose.
Facilitated diffusion-glucose transporters (GLUTs) are encoded by the solute-linked carrier (SLC) family 2, subfamily A gene family, or SLC2A. The 14 GLUT protein members are distributed into three classes:
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Learning disabilities are cognitive disorders caused by neurological impairments that affect cognitive functions like language and reading, without indicating overall intellectual or developmental challenges. These disabilities differ from global intellectual or developmental disabilities as they are limited to distinct cognitive functions. Common learning disabilities include dysgraphia, dyslexia, and dyscalculia, each of which impacts unique aspects of learning.
Dyslexia
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Satellite stem cells or myosatellite cells are quiescent stem cells that Alexander Mauro first identified in 1961. These cells are located between the sarcolemma, the plasma membrane of muscle fibers, and the basal lamina, the connective tissue sheath covering it. These mononucleated cells are activated in response to muscle injury, can transform into myoblasts, and may form or repair muscle fibers. Myosatellite cells can provide additional myonuclei for muscle regeneration or return to a...
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Myasthenia Gravis: Overview and Treatment01:20

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The clinical conditions affecting the skeletal muscle tissue are broadly categorized as musculoskeletal and neuromuscular disorders.
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Myasthenia Gravis: Diagnostic Tests01:15

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Myasthenia gravis is an autoimmune condition affecting neuromuscular transmission, causing generalized weakness in skeletal muscles. Initial diagnoses rely on patients' signs, symptoms, and medical history. The challenge lies in distinguishing myasthenia from other muscular dystrophies. An important diagnostic feature is the significant improvement of symptoms after administering anticholinesterase inhibitors.
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Related Experiment Video

Updated: Jun 24, 2025

A Protocol for Comprehensive Assessment of Bulbar Dysfunction in Amyotrophic Lateral Sclerosis ALS
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GLUT1DS focus on dysarthria.

Miriam Corradini1, Martina Paola Zanaboni1, Costanza Varesio2

  • 1Department of Child Neurology and Psychiatry, IRCCS Mondino Foundation, Pavia, Italy.

European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society
|June 8, 2024
PubMed
Summary
This summary is machine-generated.

Speech disorders, including dysarthria and articulation issues, are a core feature of Glucose Transporter Type 1 Deficiency Syndrome (GLUT1DS). Early neurocognitive assessment is crucial for intervention and development.

Keywords:
DysarthriaGLUT 1 transporter deficiency syndrome GLUT1DSSpeech

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Area of Science:

  • Genetics
  • Neurology
  • Speech-Language Pathology

Background:

  • Glucose Transporter Type 1 Deficiency Syndrome (GLUT1DS) is a rare genetic disorder.
  • It results from SLC2A1 gene mutations, impairing glucose transport across the blood-brain barrier.
  • Speech disorders and dysarthria are common but underexplored in GLUT1DS.

Purpose of the Study:

  • To characterize the speech abilities of patients with GLUT1DS.
  • To provide a detailed phenotyping of speech impairments in this population.

Main Methods:

  • Recruitment of 30 patients diagnosed with GLUT1DS.
  • Comprehensive assessment of speech and oromotor domains.

Main Results:

  • Patients exhibited dysarthria, imprecise consonant articulation, abnormal nasal resonance, and prosody/intonation errors.
  • Difficulties in motor planning and programming were observed.
  • A significant correlation was found between genotype and the severity of dysarthria.

Conclusions:

  • Speech disorders are a central characteristic of GLUT1DS.
  • Comprehensive neurocognitive assessment is recommended to identify speech profile strengths and weaknesses.
  • Understanding the speech phenotype is vital for timely intervention to support global development in GLUT1DS patients.