Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Neuromuscular Department, |
RCV001169837 | SCV001244942 | uncertain significance | Charcot-Marie-Tooth disease axonal type 2Q | 2020-04-26 | no assertion criteria provided | clinical testing | A 14-year-old boy developed subacute bilateral foot drop and plantar flexion weakness at age 12. Bicipital and knee DTRs were preserved and upper limbs seemed normal. The electrodiagnostic study was in favor of length-dependent sensorimotor axonal polyneuropathy. |