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