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ALS - Motor Neuron Disease: Mechanism and Development of New Therapies
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"A" motor neuron disease.

Venugopalan Y Vishnu1, Manish Modi1, Sudesh Prabhakar1

  • 1Department of Neurology, Post Graduate Institute of Medical Education and Research, Chandigarh 160012, India.

Journal of the Neurological Sciences
|October 22, 2013
PubMed
Summary
This summary is machine-generated.

Allgrove syndrome, a rare disorder causing achalasia, alacrima, and adrenal insufficiency, is often underdiagnosed. Early recognition is crucial for managing its diverse neurological and systemic symptoms.

Keywords:
AchalasiaAdrenal insufficiencyAlacrimiaAllgrove syndromeAutonomic dysfunctionMotor neuron disease

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Area of Science:

  • Endocrinology
  • Neurology
  • Genetics

Background:

  • Allgrove syndrome (achalasia, alacrima, adrenal insufficiency) is a rare autosomal recessive disorder.
  • Adult presentation is uncommon, leading to diagnostic delays due to low clinician awareness.

Observation:

  • A 36-year-old male initially treated for achalasia cardia presented with distal weakness and wasting, diagnosed as Amyotrophic Lateral Sclerosis.
  • Further evaluation revealed alacrimia, autonomic dysfunction, and mild ACTH resistance, consistent with Allgrove syndrome.

Findings:

  • Allgrove syndrome can present with heterogeneous neurological symptoms, including amyotrophy and autonomic dysfunction.
  • A subgroup of patients may experience a less severe, chronic disease course.

Implications:

  • Increased awareness of Allgrove syndrome is vital for timely diagnosis and management of its multisystemic manifestations.
  • Early diagnosis facilitates treatment for associated adrenal insufficiency, autonomic dysfunction, and dysphagia.