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).




