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PubMed This is a summary of 17 peer-reviewed journal articles Updated
Neurology

Long-Term Monitoring and Surveillance

At a Glance

Long-term monitoring for SANDO syndrome is individualized: baseline and repeat checks may cover the liver, nervous system, swallowing, vision, hearing, and heart. Illness, sudden symptom changes, and surgery require a specific plan with the metabolic care team.

Because SANDO syndrome is a progressive condition that can affect multiple organ systems, long-term care focuses on “surveillance”—the proactive monitoring of your health to catch and manage complications before they become emergencies [1][2]. While there is no universal “one-size-fits-all” schedule, most mitochondrial specialists recommend a baseline assessment of all major systems followed by regular check-ups tailored to your specific symptoms [3][4].

Recommended Surveillance Areas

Current clinical practice for POLG-related disorders involves tracking several key areas. Your doctors will adjust the frequency of these tests based on your age, how stable your symptoms are, and any past abnormal results [1]. It is important to note that routine instrumental swallowing tests, brain MRIs, or EEGs are not automatically needed in every stable, asymptomatic patient; they should be individualized.

System What is Monitored Common Tests
Liver Liver function and clotting ability [5]. Liver enzymes (ALT/AST), Bilirubin, and INR/coagulation profiles [6].
Neurology Coordination, balance, and seizure activity [7]. Neurological exams (SARA scale), EEG (if seizures are suspected), and occasional brain MRI [8].
Swallowing Safety of swallowing to prevent aspiration [9]. Speech-Language Pathology (SLP) consult and Videofluoroscopy (VFSS) or FEES [10].
Vision Eyelid droop, eye movement, and retinal health [11]. Neuro-ophthalmology exam, Visual Fields, and Optical Coherence Tomography (OCT) [12].
Hearing Sensory-neural hearing loss [1]. Audiology and hearing booth testing.
Heart Heart rhythm and muscle function [1]. ECG (Electrocardiogram) and Echocardiogram (Echo).

Monitoring During Metabolic Stress

A hallmark of mitochondrial disease is that the body’s energy needs increase during times of “metabolic stress” [13]. During these times, the surveillance schedule must become much more rigorous.

  • Infections and Fevers: Viral infections or fevers can stress the liver or trigger a “metabolic crisis” in someone with a POLG mutation [14]. You need a concrete sick-day plan from your team specifying when to call the clinic, how to avoid dehydration and prolonged fasting, and which liver tests may be needed [5].
  • Surgery and Procedures: If you require surgery, it is vital to have a perioperative plan arranged in advance [15]. This requires an individualized plan from your metabolic team and anesthesiologist covering fluid composition, glucose monitoring, acid-base balance, medication avoidance, minimizing fasting time, and careful monitoring of anesthesia recovery [15].
  • Rapid Symptom Changes: If you notice a sudden worsening in your balance, speech, or vision, your specialists should be notified immediately, as this may indicate the need for urgent imaging or lab work [13].

The Psychological Toll of Surveillance

Living with a condition that requires constant medical monitoring can be emotionally exhausting. “Scanxiety”—the anxiety felt before or after medical tests—and the burden of frequent appointments are real challenges for many patients [16].

  • Pace Yourself: Work with your care coordinator to group appointments together when possible.
  • Focus on Function: Remember that the goal of monitoring is not just to collect data, but to ensure you have the support (like physical therapy or nutritional adjustments) to maintain your daily quality of life [17][1].
  • Seek Support: Many patients find it helpful to connect with mitochondrial disease support groups or a therapist who specializes in chronic illness to navigate the long-term nature of SANDO management [16].

Common questions in this guide

What does long-term monitoring for SANDO syndrome include?
Monitoring usually starts with a baseline review and may include liver blood tests, a neurological exam, swallowing assessment, eye and hearing checks, and heart tests. The schedule is individualized according to age, symptoms, stability, and previous results.
Do I need regular brain MRI, EEG, or swallowing tests if my SANDO symptoms are stable?
Not necessarily. In a stable person without relevant symptoms, brain MRI, EEG, and instrumental swallowing tests are not automatically required; the care team chooses them when symptoms, examination findings, or past results make them useful.
What should I do if I get a fever or infection with SANDO syndrome?
Follow the written sick-day plan from your metabolic team and use it to know when to call. The plan should address fluids, avoiding dehydration and prolonged fasting, and whether liver blood tests are needed.
How should SANDO syndrome be managed before surgery?
Ask your metabolic team and anesthesiologist to create an individualized perioperative plan before surgery. It should cover fasting time, fluids, glucose checks, acid-base balance, medication choices, and monitoring during recovery.
Which changes should prompt a call to my SANDO specialists?
A sudden worsening of balance, speech, or vision should be reported promptly because it may require urgent examination, imaging, or laboratory tests. New swallowing problems, coughing, or choking should also be discussed quickly to reduce the risk of aspiration.
Should I have hearing or heart tests even if I do not have symptoms?
Your care team may recommend baseline hearing and heart tests even without symptoms because SANDO can affect these systems. The timing depends on your medical history, examination, age, and any previous abnormal results.
How can I cope with the burden of SANDO surveillance?
A care coordinator may help group appointments, and tracking symptoms can make visits more useful. Mitochondrial disease support groups or a therapist who works with chronic illness can help with anxiety and the emotional burden of frequent monitoring.

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References

References (17)
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    [An interpretation of the expert consensus on standards for the management of patients with primary mitochondrial disease from the Mitochondrial Medicine Society].

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    Clinical and Molecular Features of POLG-Related Sensory Ataxic Neuropathy with Dysarthria and Ophthalmoparesis.

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    Compound Heterozygosity for a Novel Frameshift Variant Causing Fatal Infantile Liver Failure and Genotype-Phenotype Correlation of POLG c.3286C>T Variant.

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This page is for informational purposes only and does not constitute medical advice. Your mitochondrial or metabolic team should set your individualized monitoring schedule and sick-day or surgical plan.

Guide contents Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome
Research & Literature
05 Disease Progression and Prognosis