From: Atypical presentation of Charcot-Marie-Tooth disease type 1C with a new mutation: a case report
Time (age) course | Symptoms | INCAT [6] 0–5UL/ LL | iRODS [7] 0–48 | MRC [8] 0–60UL/LL | Diagnosis/Therapy |
---|---|---|---|---|---|
5/2016 (56) | Isolated asymmetric distal weakness and paresthesias of right UL,Generalized hyporeflexia,Pes excavatus | 1/0 | 46 | 28/30 | Suspicion of CMT1A and HNPP(PMP22 negative)Vitamins,Rehabilitation recommended |
11/2016 (56) | Progression of distal weakness of right UL,Generalized hyporeflexia,Pes excavatus | 2/0 | 43 | 25/30 | Suspicion of MADSAMIV methylprednisolone 4 g (no effect) |
1/2017 (57) | Mild distal weakness and paresthesias of left UL,Moderate distal weakness of right UL,Areflexia,Pes excavatus | 2/0 | 42 | 24/30 | IVIG 2 g/kg(transitory improvement of muscle strength of UL after 3rd cycle of IVIG)Continuation of IVIG therapy 2 g/kg every 4 weeks for 6 months,Later 1 g/kg every 3 weeks |
1/2019 (58) | Progression of distal muscle weakness and hypotrophy in small hand muscles and forearm muscles bilaterally | 3/0 | 38 | 22/30 | PE (3 cycles),IVIG 2 g/kg every 4 weeks |
1/2020 (59) | Severe progression of distal weakness of both UL,Hypotrophy and weakness of forearm and proximal UL muscles,mild distal weakness of LL | 4/1 | 35 | 20/28 | Ocrelizumab |