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Alzheimer disease is a chronic, progressive, and irreversible neurodegenerative disorder and the most common cause of dementia in older adults. It leads to gradual neuronal loss, causing cognitive decline, behavioral changes, and loss of functional independence.Risk Factors and EtiologyThe disease is multifactorial. Age is the strongest risk factor, with prevalence doubling every 5 years after age 65. Genetic factors include mutations in genes such as APP, PSEN1, and PSEN2, which are associated...
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Neurodegenerative disorders are progressive diseases that cause irreversible damage and loss to neurons in specific brain areas. Examples of these disorders include Parkinson's disease, Alzheimer's disease, Multiple Sclerosis (MS), and Amyotrophic Lateral Sclerosis (ALS). These disorders share characteristics such as proteinopathies, selective neuronal vulnerability, and a complex interplay between genetic and environmental factors. The primary therapeutic goal for these conditions is...
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Utility of Dissociated Intrinsic Hand Muscle Atrophy in the Diagnosis of Amyotrophic Lateral Sclerosis
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Delayed diagnosis in ALS: the problem continues.

Hipolito Nzwalo1, Daisy de Abreu2, Michael Swash3

  • 1Department of Neurology, Hospital de Faro, Centro Hospitalar do Algarve EPE, Algarve, Portugal.

Journal of the Neurological Sciences
|June 29, 2014
PubMed
Summary
This summary is machine-generated.

Delayed diagnosis in amyotrophic lateral sclerosis (ALS) is common, often due to initial consultations with non-neurologists. Earlier neurologist assessment and complete neurophysiological tests are crucial for timely ALS diagnosis.

Keywords:
Amyotrophic lateral sclerosisDiagnosis delayGeneral practitionerMotor neuron diseaseNeurologist

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Area of Science:

  • Neurology
  • Diagnostic Medicine

Background:

  • Amyotrophic lateral sclerosis (ALS) diagnosis can be delayed, impacting patient management and outcomes.
  • Understanding diagnostic limitations is crucial for improving early detection rates.

Purpose of the Study:

  • To investigate factors contributing to diagnostic delays in amyotrophic lateral sclerosis (ALS).
  • To identify predictors of delayed diagnosis and assess the impact of specialist consultations.

Main Methods:

  • Retrospective analysis of 120 consecutive amyotrophic lateral sclerosis (ALS) patients.
  • Assessment of diagnostic timelines, including time to first and second consultations, and time to diagnosis.
  • Multivariate logistic regression used to identify predictors of diagnostic delay, adjusting for patient demographics and clinical factors.

Main Results:

  • The median time to diagnosis for ALS was 9.5 months.
  • Younger patients (≤ 45 years) had higher odds of delayed diagnosis.
  • Female gender and bulbar-onset ALS were associated with earlier diagnosis.
  • Referral to a neurologist, particularly at the first consultation, was linked to shorter diagnostic times.
  • Incomplete neurophysiological investigations were identified as a significant factor impacting diagnosis.

Conclusions:

  • Diagnostic delay in ALS is primarily attributed to delayed referrals from general practitioners and other non-neurologist specialists to neurologists.
  • Early assessment by a neurologist and comprehensive neurophysiological testing are essential for reducing diagnostic delays in ALS.
  • Further research into optimizing referral pathways and diagnostic protocols for ALS is warranted.