Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Related Concept Videos

Hearing01:31

Hearing

54.3K
When we hear a sound, our nervous system is detecting sound waves—pressure waves of mechanical energy traveling through a medium. The frequency of the wave is perceived as pitch, while the amplitude is perceived as loudness.
54.3K

You might also read

Related Articles

Articles linked to this work by shared authors, journal, and citation graph.

Sort by
Same author

Arthrogryposis Multiplex Congenita: Comprehensive Review from a Neuromuscular Standpoint.

Genes·2026
Same author

Rhabdomyolysis: a narrative review.

Arquivos de neuro-psiquiatria·2026
Same author

Rare Duplication in the <i>RYR1</i> Gene Causing Malignant Hyperthermia and Clinical Variability.

Genes·2025
Same author

Genetic Characteristics of Brazilian Patients with MH History.

Genes·2025
Same author

<i>PNPT1</i> Spectrum Disorders: An Underrecognized and Complex Group of Neurometabolic Disorders.

Muscles (Basel, Switzerland)·2025
Same author

<i>PRKAG2</i> Variant, Motor Neuron Disease, and Parkinsonism: Fortuitous Association or a Potentially Underestimated Pathophysiological Mechanism?

Muscles (Basel, Switzerland)·2025

Related Experiment Video

Updated: Oct 23, 2025

Neuro-rehabilitation Approach for Sudden Sensorineural Hearing Loss
09:44

Neuro-rehabilitation Approach for Sudden Sensorineural Hearing Loss

Published on: January 25, 2016

19.4K

Mitochondrial myopathy and sensorineural hearing loss: case study.

Renata da Silva1, Marilia Rodrigues Freitas de Souza1, Acary Souza Bulle Oliveira2

  • 1Departamento de Fonoaudiologia, Universidade Federal de São Paulo - UNIFESP - São Paulo (SP), Brasil.

Codas
|August 18, 2021
PubMed
Summary

L-carnitine deficiency can cause mitochondrial myopathy and hearing loss. Early diagnosis and intervention, including hearing aids and speech therapy, led to successful language development and academic achievement in a patient with muscular lipidosis.

More Related Videos

Cryosectioning and Immunostaining Mouse Inner Ear Tissue: From Embryonic to Adult Stages
09:09

Cryosectioning and Immunostaining Mouse Inner Ear Tissue: From Embryonic to Adult Stages

Published on: April 11, 2025

1.1K
Cochlear Surface Preparation in the Adult Mouse
09:51

Cochlear Surface Preparation in the Adult Mouse

Published on: November 6, 2019

16.5K

Related Experiment Videos

Last Updated: Oct 23, 2025

Neuro-rehabilitation Approach for Sudden Sensorineural Hearing Loss
09:44

Neuro-rehabilitation Approach for Sudden Sensorineural Hearing Loss

Published on: January 25, 2016

19.4K
Cryosectioning and Immunostaining Mouse Inner Ear Tissue: From Embryonic to Adult Stages
09:09

Cryosectioning and Immunostaining Mouse Inner Ear Tissue: From Embryonic to Adult Stages

Published on: April 11, 2025

1.1K
Cochlear Surface Preparation in the Adult Mouse
09:51

Cochlear Surface Preparation in the Adult Mouse

Published on: November 6, 2019

16.5K

Area of Science:

  • Neurology
  • Genetics
  • Audiology

Background:

  • Mitochondrial myopathy, linked to L-carnitine insufficiency, impairs energy production and can cause muscular lipidosis.
  • L-carnitine is crucial for transporting fatty acids into mitochondria for energy synthesis.

Observation:

  • A 37-year-old female patient (B.D.) was diagnosed with muscular lipidosis and L-carnitine deficiency at age 6.
  • She presented with hearing difficulties and inattention, diagnosed as moderate bilateral sensorineural hearing loss.
  • The patient utilized behind-the-ear (BTE) and later Completely in Canal (CIC) hearing aids, with speech-language follow-up.

Findings:

  • Continuous L-carnitine supplementation (2g/day) was initiated by a neurologist.
  • Hearing aid use significantly improved academic performance and communication.
  • Despite a slight worsening of hearing thresholds, CIC aids offered better sound localization and high-frequency gain.

Implications:

  • Early neurological diagnosis and timely speech-language intervention are vital for managing L-carnitine deficiency.
  • Effective audiological management, including appropriate hearing aids, supports language development and educational attainment.
  • This case highlights the importance of a multidisciplinary approach in addressing complex metabolic and sensory disorders.