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Related Experiment Videos

Dropped head syndrome in mitochondriopathy.

J Finsterer1

  • 1Neurological Hospital Rosenhügel, Postfach 348, 1180, Vienna, Austria. duarte@aonmail.at

European Spine Journal : Official Publication of the European Spine Society, the European Spinal Deformity Society, and the European Section of the Cervical Spine Research Society
|February 6, 2004
PubMed
Summary

Dropped head syndrome (DHS) can stem from multi-organ mitochondriopathy, affecting muscles, heart, and bones. This condition presents with Parkinsonism and spasticity, showing limited response to Parkinsonian medications.

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Area of Science:

  • Neurology
  • Genetics
  • Pathology

Background:

  • Dropped head syndrome (DHS) is characterized by progressive head ptosis.
  • Family history revealed thyroid dysfunction and neuromuscular disorders.
  • Patient had a history of tick bites, dilative cardiomyopathy, and osteoporosis.

Observation:

  • Neurological exam showed forward head drop, neck stiffness, shoulder girdle weakness, cogwheel rigidity, and tetraspasticity.
  • Lactate stress test was abnormal, and electromyograms indicated myogenic myopathy.
  • Muscle biopsy revealed non-specific myogenic abnormalities and reduced cytochrome oxidase staining.

Findings:

  • Mitochondriopathy with multi-organ involvement was suspected as the underlying cause of DHS.
  • The patient exhibited Parkinsonism, tetraspasticity, dilative cardiomyopathy, osteoporosis, short stature, and myopathy.

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  • Response to anti-Parkinson medication was poor.

    • Implications:

    • Multi-organ mitochondriopathy can manifest as dropped head syndrome with diverse systemic involvements.
    • This case highlights the potential link between mitochondrial disorders and complex neurological presentations.
    • Therapeutic strategies for dropped head syndrome secondary to mitochondriopathy may require approaches beyond standard anti-Parkinsonian treatments.