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Participant 226

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Female, age 37, with nervous system dysfunction (dysautonomia), muscle weakness and fatigue, muscle cramping, and painful “pins-and-needles” feeling in extremities (small fiber neuropathy)

Date of Report

Jun 25, 2024


The participant has a 15-year history of progressive muscle weakness and fatigue. At first, she noticed muscle cramping and pain after physical activities. This became more frequent and severe over time. The cramping occurs both in her upper and lower extremities. More recently, the participant began experiencing cramping in her fingers.

The participant has significant pain associated with her cramping. She experiences difficulties lifting the front part of her foot (foot drop) after walking prolonged long distances. She has walking difficulties also develops a high stepping, abnormal walking pattern (steppage gait). A skin punch biopsy indicated small fiber neuropathy. The participant’s mother and aunt also experience muscle cramping, although their symptoms are less severe.

In 2022, the participant reported having low blood pressure symptoms when standing upright (orthostatic hypotension) but has never passed out. She has also been diagnosed with a condition affecting blood pressure and heart rate when standing upright (POTS).

In 2024, the participant was diagnosed with hypermobile Ehlers-Danlos syndrome. However, this does not explain her muscle cramping, pain, and small fiber neuropathy. The participant’s symptoms progressively worsen overtime.

Symptoms / Signs
  • Autonomic nervous system dysfunction (Abnormal autonomic nervous system physiology)
  • Nerve damage (Peripheral neuropathy)
  • Low blood pressure when standing upright (Orthostatic hypotension)
  • Progressive muscle weakness
  • Exercise-induced muscle cramps
  • High stepping (Steppage gait)
  • Reduced intraepidermal small nerve fiber density
  • Elevated circulating creatine kinase concentration
  • Fatigue
Current Treatments
  • Albuterol HFA
  • Levothyroxine
  • Montelukast
  • Olmesartan
  • Ondansetron
  • Paroxetine
  • Pregabalin
  • Propranolol
  • Rivaroxaban
  • Tramadol
  • Xolair
Prior Treatments
Considered treatments
Previously Considered Diagnoses
  • Glycogen storage diseases
  • Inflammatory myopathy
  • Metabolic myopathy (such as CPT2)
  • Myasthenia gravis
  • Neuromuscular Disorders
  • Stiff person syndrome
Other Photographs
Genetic Variants of Interest

If this participant sounds like you or someone you know, please contact us!


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