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Taking a History

The key word in describing the care needed by a mitochondrial disease patient is thorough.  Given the complicated nature of the disease, a complete and detailed history will identify the many challenges facing the patient and family.

Below is a list of questions that compose a suitable review of systems.

GENERAL

  • Infections - are symptoms (esp. fatigue) more severe than in sibs or than expected.  Is recovery to baseline overly long (by days or weeks)?
  • Tolerance to general anesthesia.

NEUROLOGICAL

  • Fatigue - includes gross motor fatigue (usually following activity)?  Fine motor fatigue (with writing)?  Ptosis?  Spontaneous dyspnea, or shortness of breath for no apparent reason)?  Triggers?
  • Sleep disturbance (evidence of sleep apnea?).
  • Muscle aches (triggers?)  Associated myoglobinuria?
  • Headaches/migraine (triggers?)
  • Numbness or paresthesiae (triggers?)
  • Seizures.
  • Episodic confusion (triggers?).
  • Change in memory (short-term, long-term), motor planning, concentration.

AUTONOMIC DYSFUNCTION

  • Heat and cold tolerance.
  • Abnormal sweating (absent or inappropriate).
  • Baseline body temperature (lower than normal?).
  • Spontaneous pallor, flushing, mottling (triggers?).
  • Dizziness (triggers?).
  • Heart rate or blood pressure problems.
  • Pain sensitivity.

PSYCHOLOGICAL

  • Is depression or anxiety a component of the phenotype (which could be a cause of or exacerbating symptoms)?

GI

  • Evidence of reflux or slowed motility (premature fullness, post-prandial abdominal pain, tendency to graze vs. eat big meals, regular bloating).
  • Constipation, or alternating constipation/diarrhea.
  • Difficulty passing stools (may be large in volume but not hard).

RENAL/BLADDER

  • Evidence of neurogenic bladder - retention, double-voiding to evacuate bladder, frequent urinary tract infections

EYES/VISION

  • Blurry vision or diplopia with fatigue (due to eye muscle weakness and divergence).
  • Problems with night vision.

HEARING

  • Hearing loss.

CARDIAC

  • Issues suggestive of cardiomyopathy, arrhythmia.
  • Dizziness due to autonomic dysfunction (e.g., orthostatic hypotension).

 

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