| Remarks |
Clinically affected; symptom onset and diagnosis at age 20 years;
drop foot; weakness in legs, ankles, feet, arms, and hands- weakness of small muscles in hands and at flexors and extensors of the fingers bilaterally; numbness and tingling in hands and toes, especially the second toe on left foot; wasting of muscles in hands and legs-thenar eminences and the first dorsal interosseous muscle bilaterally; deep tendon reflexes are 1+ in arms and absent in legs; walks with inverted feet; pain in feet and back while walking; electromyography results displayed evidence for severe sensorimotor demyelinating neuropathy affecting the arms and legs, consistent with clinical diagnosis of inherited demyelinating neuropathy; treatment includes physical therapy; family history: affected mother (reportedly had positive genetic test results-not provided in clinic note), 2 affected sisters (sample from 1 sister is available-GM23484), affected son -GM23444, affected niece, and affected nephew.
|