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Mitochondrial encephalomyopathy: variable clinical expression within a single kindred

D Crimmins1, J G Morris, G L Walker

  • 1Department of Neurology, Westmead Hospital, Sydney, Australia.

Journal of Neurology, Neurosurgery, and Psychiatry
|August 1, 1993
PubMed
Summary
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Mitochondrial encephalomyopathy presents diverse symptoms across generations, from deafness to severe neurological issues. A specific mitochondrial mutation (nt 3243 A-G) showed varied clinical expressions within one family.

Area of Science:

  • Neurology
  • Genetics
  • Mitochondrial Diseases

Background:

  • Mitochondrial encephalomyopathies are a group of inherited disorders affecting the brain and muscles.
  • Clinical presentation and genetic basis of these disorders can be highly variable.

Observation:

  • A single kindred spanning four generations exhibited a wide spectrum of neurological symptoms.
  • Onset of neurological disturbance ranged from early childhood (3 years) to adulthood (70 years).
  • Manifestations included isolated deafness, recurrent status epilepticus, focal neurological deficits, and headaches.

Findings:

  • The kindred displayed clinical features consistent with MELAS (Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-like episodes), MERFF (Myoclonic Epilepsy with Ragged Red Fibers), and Kearns-Sayre syndrome.

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  • Associated symptoms included short stature, diabetes mellitus, migraine, peptic ulceration, and constipation.
  • The specific nt 3243 A-G mutation, linked to MELAS, was identified in two family members, underscoring genetic heterogeneity.

    • Implications:

    • This study demonstrates significant clinical variability of mitochondrial DNA mutations within a single family.
    • Understanding this diversity is crucial for accurate diagnosis and genetic counseling in mitochondrial disorders.
    • Highlights the importance of comprehensive clinical evaluation for patients with suspected mitochondrial diseases.