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Related Concept Videos

Alzheimer Disease l: Introduction01:29

Alzheimer Disease l: Introduction

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...
Esophageal Achalasia01:27

Esophageal Achalasia

Esophageal achalasia is a chronic neurogenic disorder characterized by impaired relaxation of the lower esophageal sphincter (LES) and absent or ineffective peristalsis in the distal esophagus. This leads to a functional obstruction without a physical blockage, despite significant disruption of esophageal motility.EtiologyAchalasia is caused by degeneration of the myenteric (Auerbach's) plexus, specifically the loss of inhibitory ganglion cells that produce vasoactive intestinal peptide (VIP)...
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Myasthenia Gravis ll: Pathophysiology

The disease process of myasthenia gravis begins at the neuromuscular junction, where antibodies attack key proteins needed for muscle activation. This immune reaction weakens signal transmission, leading to the characteristic muscle fatigue and weakness that define the condition.Immune-Mediated DamageIn most individuals, antibodies target acetylcholine receptors (AChRs) on the postsynaptic membrane of muscle cells. By blocking acetylcholine binding, these antibodies prevent the nerve signal...
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Multiple Sclerosis l: Introduction

Multiple sclerosis is a chronic autoimmune disease of the central nervous system (CNS) that affects the brain, spinal cord, and optic nerves. It is an inflammatory demyelinating disorder and a leading cause of neurological disability in young adults.EpidemiologyMS commonly begins between 20 and 40 years of age and is twice as common in women. Its exact cause remains unclear, but genetic susceptibility contributes, with higher risk in first-degree relatives and identical twins. A greater...
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Alterations in Muscle Tone lll

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Updated: Jul 3, 2026

Utility of Dissociated Intrinsic Hand Muscle Atrophy in the Diagnosis of Amyotrophic Lateral Sclerosis
08:16

Utility of Dissociated Intrinsic Hand Muscle Atrophy in the Diagnosis of Amyotrophic Lateral Sclerosis

Published on: March 4, 2014

Triple A syndrome mimicking ALS.

Maria Strauss1, Katrin Koehler, Manuela Krumbholz

  • 1Department of Neurology, Martin-Luther-University, Halle, Saale, Germany.

Amyotrophic Lateral Sclerosis : Official Publication of the World Federation of Neurology Research Group on Motor Neuron Diseases
|July 11, 2008
PubMed
Summary

Triple A syndrome, a rare genetic disorder, can present with neurological symptoms mimicking juvenile Amyotrophic Lateral Sclerosis (ALS). Genetic analysis confirmed compound heterozygous mutations in the AAAS gene, highlighting this diagnostic challenge.

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Last Updated: Jul 3, 2026

Utility of Dissociated Intrinsic Hand Muscle Atrophy in the Diagnosis of Amyotrophic Lateral Sclerosis
08:16

Utility of Dissociated Intrinsic Hand Muscle Atrophy in the Diagnosis of Amyotrophic Lateral Sclerosis

Published on: March 4, 2014

A Protocol for Comprehensive Assessment of Bulbar Dysfunction in Amyotrophic Lateral Sclerosis (ALS)
12:43

A Protocol for Comprehensive Assessment of Bulbar Dysfunction in Amyotrophic Lateral Sclerosis (ALS)

Published on: February 21, 2011

Area of Science:

  • Genetics
  • Neurology
  • Endocrinology

Background:

  • Triple A syndrome (Allgrove syndrome) is a rare autosomal recessive disorder characterized by the triad of achalasia, alacrima, and adrenal insufficiency.
  • Neurological manifestations are increasingly recognized but not typically the primary presenting feature.

Observation:

  • A 22-year-old female presented with a two-year history of progressive distal muscular atrophy and weakness in all limbs.
  • Clinical examination revealed symmetrically brisk reflexes, consistent with both upper and lower motor neuron involvement.
  • Past surgical history included achalasia, and current findings included alacrima and adrenal insufficiency.

Findings:

  • Initial electrodiagnostic studies suggested juvenile Amyotrophic Lateral Sclerosis (ALS).
  • However, the constellation of symptoms, including achalasia, alacrima, and adrenal insufficiency, raised suspicion for Triple A syndrome.
  • Genetic sequencing of the AAAS gene identified compound heterozygous mutations, confirming the diagnosis of Triple A syndrome with neurological involvement.

Implications:

  • This case highlights that Triple A syndrome can present with neurological symptoms that closely mimic juvenile ALS.
  • Early recognition and genetic testing for the AAAS gene are crucial for accurate diagnosis and management of Triple A syndrome.
  • Expanding the differential diagnosis for motor neuron diseases to include rare genetic syndromes is essential for comprehensive patient care.