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Table 2 Clinical course and treatment of polyneuropathy in patient II/5

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

  1. HNPP Hereditary neuropathy with tendency to pressure palsy, MADSAM Multifocal acquired demyelinating sensory-motor polyneuropathy, UL Upper limb, LL Lower limb, PE Plasma Exchange, IVIG Intravenous immunoglobulins, INCAT Inflammatory Neuropathy Cause and Treatment Disability Score, IV Intravenous, iRODS Inflammatory Rasch-built Overall Disability Scale, MRC Medical Research Council Sum Score