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Participant 034


weakness, dizziness, & paralysis
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Female, age 26, with muscle weakness and pain (myalgia), chronic fatigue, exercise intolerance, and severe episodes of weakness, dizziness, and paralysis.

Date of Report

Sep 01, 2017

Description

When the participant was 9 years old, she started having episodes of muscle weakness, pain (myalgia), nausea, and dizziness. Other symptoms during severe episodes include: paralysis, feeling cold, slow heart rate, and low blood oxygen levels. These episodes would range from several minutes to several days. The episodes are typically triggered by physical activity, fasting, fatigue, stress, and extreme temperatures.

At the age of 19, the participant’s symptoms got much worse. She began to experience severe fatigue and weakness, which affected her ability to move and exercise. She was also found to have difficulty walking (scissor gait, gait disturbance, gait ataxia), GI issues (gastrointestinal dysmotility), cold and heat intolerance, excessive sweating (hyperhidrosis), and exercise intolerance. At 24, she was diagnosed with Postural Orthostatic Tachycardia Syndrome (POTS).

Symptoms / Signs
  • Muscle tissue disease (myopathy)
  • Muscle pain (myalgia)
  • Muscle inflammation (myositis)
  • Joint hypermobility
  • Muscle weakness
  • Frequent falls
  • Sensation of feeling off balance (vertigo)
  • Difficulty walking
  • Unusual manner of walking (scissor gait, gait disturbance, gait ataxia)
  • Weakness of foot and ankle (foot dorsiflexor weakness)
  • Increased muscle glycogen and lipid content
  • Exercise intolerance
  • Chronic fatigue
  • Cold and Heat intolerance
  • Excessive sweating (hyperhidrosis)
  • Inflamed and irritated skin (eczema)
  • Cognitive impairment
  • Anxiety
  • Decreased amount of oxygen consumed (decreased aerobic capacity)
  • Decreased blood pressure and increased heart rate (postural hypotension with compensatory tachycardia)
  • Irregular heartbeat (palpitations)
  • Dysfunction of the autonomic nervous system (dysautonomia)
  • GI issues (gastrointestinal dysmotility)
Current Treatments
  • Adderall XL- chronic fatigue and brain fog
  • Aspirin- high factor VIII activity
  • Cetirizine- seasonal allergies
  • Cholecalciferol, Ergocalciferol– vitamin D supplement
  • Coenzyme Q-10 –suspected mitochondrial disorder
  • Duloxetine – chronic muscle and back pain
  • Glycosade – prevention of severe episodes of weakness, dizziness, and paralysis
  • Levalbuterol, montelukast- asthma
  • Levocarnitiine – low carnitine
  • Melatonin- waking up at night
  • Metoprolol – POTS
  • Minimizing exercise
  • Naproxen – pain
  • Omeprazole- acid reflux
  • Prilosec- heatburn
  • Regular consumption of carbs and avoiding fasting
  • Use of a power assist wheelchair
Prior Treatments
  • Cyproheptadine – appetite stimulant
  • Ferrous sulfate – iron deficiency
  • Fludrocortisone Acetate and sodium chloride –POTS
  • Ranitidine – acid reflux
  • Ondansetron- nausea
Considered treatments
  • Ketogenic diet
Previously Considered Diagnoses
  • Channelopathy
  • Ehlers-Danlos syndrome
  • Glucose transporter type 1 deficiency syndrome
  • Lyme disease
  • Mitochondrial disorder
  • Multiple acyl CoA dehydrogenase deficiency
  • Multiple sclerosis
  • Organic acid metabolism disorder
  • Periodic hypokalemic paralysis
  • Pompe disease
  • Pyruvate dehydrogenase deficiency
Other Photographs
Genetic Variants of Interest
Contact

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