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Participant 020


undiagnosed

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Female, age 44 with history of migraine headaches, sleep apnea, anxiety, myoclonic jerks, temperature intolerance, arthritis of the hands, osteoarthritis of the spine

 

Date of Report

May 08, 2017

Description

This patient has had constant headaches all the time for over 20 years. At age 34 she gave birth to her daughter and experienced intense problems with temperature regulation, feeling intense burning on her skin and within her whole body. She had a fall at age 22 and began to experience spine troubles, but the symptoms worsened quickly around age 38 and she had hip surgery at age 40. Around age 42 she began experiencing jerking of her arms and legs, especially when falling asleep, waking up, or relaxing. Around this same time she also began experiencing sleep apnea, which gets better with the use of a CPAP machine (continuous positive airway pressure). She notes occasional trouble retaining short-term memory. Around age 40 she developed arthritis in her fingers. This patient experiences significant fatigue. Stress makes her symptoms much worse.

Symptoms / Signs
  • Joint pain (arthralgia)
  • Joint inflammation (arthritis)
  • Mild breaking down of the disks in between the vertebrae of the spine (intervertebral disc degeneration, mild)
  • Involuntary limb movements
  • Anxiety
  • Difficulty breathing while sleeping (sleep apnea)
  • Increased sensitivity of the eyes to light (photophobia)
  • Feeling off balance (vertigo)
  • Difficulty breathing (dyspnea)
  • Decreased ability to perform physical exercise (exercise intolerance)
  • Breaking down of the joints in the vertebral column of the neck (cervical spondylosis)
  • Muscle weakness
  • Flexible tissue at ends of the bone in both hands wearing down significantly and worsening (osteoarthritis of the small joints of the hand, young adult onset, progressive, profound, chronic, distal, bilateral)
  • Abnormality of the hip bone
  • Mild shortening of the fingers (brachydactyly syndrome of the hands, mild)
  • Joint swelling
  • Difficulty with speech (dysphasia)
  • Memory impairment
  • Difficulty sleeping (sleep disturbance)
  • Fatigue, severe
  • Headache
  • Dysfunction of the autonomic nervous system that controls temperature and other automatic bodily functions (dysautonomia)
  • Esophagitis, eosinophilic (allergic inflammation of white blood cells in esophagus)
  • Poikiloderma (skin condition with patches of increased and decreased pigmentation, wrinkling, and red spots)
  • Chronic pain
  • Emotional
  • Brief, involuntary jerks of the muscles (myoclonus)
  • Disruption in ability to walk (gait disturbance)
  • Abdominal pain
  • Nausea and vomiting
  • Inability to maintain comfortable body temperature in warm weather (heat intolerance)
  • Red blood cells that are larger than normal (erythrocyte macrocytosis)
Current Treatments
  • Plaquenil—for osteoarthritis
  • Levothyroxin—for hypothyroidism
  • Turmeric—for inflammation
  • Vitamin D
  • Vitamin B12
Prior Treatments
  • Keppra—for involuntary limb movements
Considered treatments
Previously Considered Diagnoses
  • Fibromyalgia
  • Livedo reticularis (skin pigment disorder)
Other Photographs
Genetic Variants of Interest
Contact

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