The patient has multiple chronic medical problems including esophagus damage (achalasia), low cortisol, an inability to produce tears (alacrimia), severe pain with urination, delayed gastric emptying (gastroparesis), autonomic nervous system dysfunction (dysautonomia), increased heart rate (supraventricular tachycardia), and bipolar affective disorder. The patient also recently transitioned from female to male … read more
The patient was in excellent health until age 45 when she started to notice muscle weakness and difficulty keeping up while playing sports. Her muscle weakness has continued to worsen and she now has balance problems, muscle twitching (fasciculations) and cramps, and difficulty with coordination. She has significant respiratory muscle … read more
Early on in life, the participant was very unhappy, often screaming and appearing uncomfortable. Around 2 months, she was noticed to have low muscle tone (hypotonia). A brain MRI was performed, which was abnormal (large cerebellum). She proceeded to have genetic testing (microarray), which identified a chromosomal deletion (983.10 kb … read more
