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Participant 213

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Female, age 30, with muscle weakness and wasting, loss of consciousness, heart rate abnormalities, and suspected abnormal autonomic nervous system physiology

Date of Report

Jul 17, 2023


The participant was delivered via C-section due to breech presentation. She was noted to have decreased fetal movements during the pregnancy. At birth, the participant had a good Apgar score but did not cry well. She rarely cried during infancy. Rather than being fed on demand, the participant was fed regularly.

At 3 months old, the participant was noted to be floppy, unable to move well, and with low muscle tone (hypotonia). She was able to roll over at 1 month. She has not been able to sit or stand independently and required physical therapy. The participant’s speech was delayed until 2 years old when they were able to speak in short sentences.

At 5 months old, the participant seemed tired (lethargy) and was noted to have low blood sugar (hypoglycemia). This was treated with bottle feedings. Her blood sugar level was typically in the 40 to 60 range.

At 11 years old, the participant developed an increased curvature of the spine (scoliosis), which impacted her lung function. She was treated with a rod insertion at 14 years old. The participant’s neck muscles tilt to the left with a prominent right neck muscle (torticollis). The participant noticed that when she is cold, her muscles will begin to spasm.

Due to recurrent inflammation of the bladder (cystitis), the participant experiences some problems with her bowel and bladder control and has a stoma inserted for urine. As a teenager, the participant would often vomit (recurrent emesis) in the morning before breakfast. This has gradually improved over time.

The participant’s muscle stiffness and spasms increased as a teenager. She is being treated with a baclofen pump that is helping. She has the most stiffness and spasms in her neck, trunk, and extremities. The spasms increase when she is moving rather than when she is resting.

At 21 years old, the participant began experiencing brain fog and often felt exhausted. She would also often experience increased heart rate and heart palpitations. At times, her vision would be affected, as well. At 25 years old, the participant began experiencing pressure in her head, which a lumbar puncture procedure alleviated. An MRI showed extra fluid was found along the optic nerves. Although now rarely, she continues to experience pressure in her head and eyes, pounding in her ears, and vomiting which are treated by rest, diuretic, and anti-nausea medication. She continues to use a wheelchair.

Symptoms / Signs
  • Generalized muscle wasting (generalized muscular atrophy)
  • Stiff and tight limbs (spasticity)
  • Lethargy
  • Low blood sugar (hypoglycemia)
  • Head pressure
  • Brain fog
  • Anxiety
  • Episodic fatigue
  • Loss of consciousness (syncope)
  • Poor detection of hunger
  • Abnormal autonomic nervous system physiology (possible dysautonomia)
  • Head tilted to the left (possible torticollis)
  • Heartrate abnormalities (postural orthostatic tachycardia syndrome (POTS) and palpitations)
  • Poor bowel and bladder control due to brain/spinal cord/nerve complications (neurogenic bladder)
  • Hand differences (short palm, ulnar deviation of the hand)
  • Shortened trunk and limb length
  • Distal to proximal muscle weakness
  • Skeletal differences (scoliosis)
  • Decreased muscle tone as an infant (infantile hypotonia)
  • Involuntary movements (clonus)
  • Increased reflexes (hyperreflexia)
  • Inability to straighten limbs (flexion contracture)
  • Inability to walk
  • Suspected low blood sugar (hypoglycemia)
Current Treatments
  • Acetazolamide
  • Afflovest
  • Baclofen
  • Buspirone
  • CoQ10
  • Cough assist device
  • Electrolyte salts
  • Famotidine
  • Formorterol fumarate
  • Ibuprofen
  • Naproxen
  • Oodensetron
  • Triamcinolone acetonide
Prior Treatments
  • Ditropan (oxybutynin chloride)
  • Niacin (vitamin B3)
  • ProAmatine (midodrine)
  • Vitamin B12 and B3
Considered treatments
Previously Considered Diagnoses
  • Chromosomal aneuploidies
  • Emery-Dreifuss muscular dystrophy type 2
  • Fatty acid disorders
  • Infection
  • Metabolic disorders
  • Mitochondrial disorders
  • Myopathy
  • X-linked adrenoleukodystrophy
Other Photographs
Genetic Variants of Interest

Clinicians and researchers are investigating the following genetic changes to see if they are causing the participant’s symptoms:

Inheritance Pattern
Position (hg19)
DNA Change
Protein Change
Autosomal recessive
Autosomal recessive
chr12:g.32786608_ 32786612del
Autosomal recessive
chr18:g.21148826_ 21148827dup
Autosomal recessive
chr8:g.126746115G>A & chr8:g.126649337C>A
c.952G>A & c.-19+13599C>A
p.Val318Ile & N/A

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


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