Supplementary Table 2: Clinical symptoms and features of the patients involved in this study

Patient Onset of CMTES Gait difficulties Motor symptoms Sensory Any other disease/therapy used or (male/female/ symptoms and muscle symptoms other features age at clinical (years) weakness examination) F1/M/72 55 11 yes walking difficulties positive RX-therapy for prostate cancer (bilateral support), symptoms feet 2012; 1995 AdenoCa colon mild difficulty with buttons F2/F/35 5 14 yes, steppage complete foot decreased paresis, mild hand sensation weakness pain/touch and vibration sense up to the knee F2//F/61 childhood mild yes no info no info F3/F/23 4 9 yes (foot surgery) steppage gait, none moderate foot weakness, mild-to- moderate hand weakness F3/F/54 31 11 mild, ataxia difficulties with sensory ataxia walking and buttons (sensory >> > for sensory loss motor symptoms), loss of sensation up to midcalf, deep sensation loss F4/M/40 35 2 no (difficult on tendency to stumble reduced heels) sensation at feet F5/F/42 almost 1 no shoe inserts none asymptomatic at the time of asymptomatic diagnosis F6/F/68 15 17 chair bound wheelchair, severe only position sporadic presentation weakness lower and vibration limbs, mild-to- sense loss, moderate hands mild-to- moderate F7/M/65 adolescence 10 yes, steppage walking difficulties, decreased HCV positive in the past, now steppage + foot sensation negative after therapy deformities pain/touch (surgery), mild feet up to difficulty with midcalf buttons F7/F/50 40-45 7 no shoe inserts, no clear more sensory; breast cancer surgery, on weakness decreased pain Tamoxifen treatment at feet and calves, vibration reduced at toes; positive symptoms F8/F/51 12 7 yes, moderate steppage, upper none slightly more severely affected than (foot surgery) limbs moderate the sister weakness with split hand; moderate weakness lower limbs (foot dorsiflexion MRC 0) F8/F/50 9 7 yes, moderate (no steppage, upper none papillar carcinoma thyroid. Total foot surgery) limbs mild-to- thyroidectomy with paratracheal moderate weakness lymphadenectomy in 2012 (MRC 3); moderate weakness lower limbs (foot dorsiflexion MRC 0); increased knee jerks F9/M/60 57 5 minimal minimal gait paresthesias difficulties, no clear- distally in cut weakness; lower limbs; minimal difficulties decreased with buttons vibration sense in right great toe F9/F/69 55 11 yes moderate steppage gait, AFO to decreased walk unaided, pinprick at toes unilateral support and vibration without AFO, at knees moderate hand weakness more I interosseous F10/M/40 13 4 no (pes cavus) increased knee deep none tendon reflexes; weakness of intrinsic hand muscles; improved after bilateral tendon transfer hands F11/M/50 47 1 no muscle cramps, no lower limb recent diagnosis of foot psoriatic weakness; slips pains; no arthritis; prednisone 20 mg/daily; sensory loss glucose intolerance F12/F/70 25 9 yes, inconstant foot weakness, vibration sense unilateral support severe distal muscle reduced up to wasting lower limbs; the knees shoe inserts, mild-to- moderate hand weakness (MRC intrinsic 2-4 MRC) F13/M/57 50 10 yes, walking stick Only distal lower none ankle arthrodesis limb weakness and wasting, severe foot drop, exclusively motor F13/M/34 28 7 yes, ankle foot both upper and sensory loss in autoimmune ankylosing spondylitis, orthoses lower limb distal feet steroid and biology therapy (TNF) weakness and atrophy, both motor and sensory symptoms, pes cavus F14/F/46 40 7 yes, frequent falls only lower limb mild sensory involvement, both loss in feet proximal and distal weakness and atrophy in legs and feet F15/F/78 50 10 yes, high both upper and mild sensory steppage, lower limb distal changes in bilateral splints weakness and lower limbs atrophy, more severe in legs, severe foot drop F15/F/55 20 12 yes, high lower limb mild sensory mild hearing impairment steppage, predominant distal changes in bilateral rigid weakness and lower limbs splint atrophy, severe foot drop, decreased reflexes on legs F16/M/48 childhood-5y 9 yes, brace on left only lower limb mild sensory foot surgery foot, special involvement, distal changes boots motor weakness, foot drop, pes cavus F17/F/52 childhood 8 yes, walking stick distal motor none degenerative cervical vertebral weakness more changes / foot surgery pronounced in lower limbs, pes cavus, clawing toes, stiff Achilles, brisk reflexes, absent ankle jerk, fatigability F17/F/29 childhood 5 yes, recurrent distal motor mild sensory ankle sprains weakness on both symptoms upper and lower extremities, stiff Achilles, pes planus, fatigability F18/F/57 35 na steppage, distal muscle none carpal tunnel syndrome bilateral foot drop weakness and atrophy in lower limbs F19/M/61 14 na steppage, distal muscle none bilateral, foot weakness and drop, orthopedic atrophy in lower shoes, walks with limbs cane F19/F/59 21 na gait problems muscle wasting and none weakness F19/F/65 18 na gait problems muscle wasting and none weakness F19/M/57 15 na gait problems, marked distal muscle none hand weakness weakness F20/M/45 18 (mean) na mainly due to pronounced distal prominent ulcero-mutilations marked distal muscle wasting and sensory muscle weakness weakness abnormalities F21/F/51 12 na gait problems muscle weakness sensory loss and atrophy F21/F/68 11 na gait problems muscle weakness sensory loss tremor and dysphagia and atrophy F22/M/43 18 (mean) na mainly due to pronounced distal prominent ulcero-mutilations marked distal muscle wasting and sensory muscle weakness weakness abnormalities F22/M/77 18 (mean) na mainly due to pronounced distal prominent ulcero-mutilations marked distal muscle wasting and sensory muscle weakness weakness abnormalities F23/F/58 6 na gait problems wheelchair, sensory loss weakness in distal limbs F23/M/36 8 na gait problems wheelchair, sensory loss weakness in distal limbs F24/M/30 5 na gait problems muscle weakness none not present (Parental and atrophy in upper mosaicism) and lower limbs F25/M/55 50 na gait problems predominantly none motor, muscle weakness and atrophy F26/F/48 11-20 na abnormal weakness in distal sensory loss mobility limbs F26/F/73 no clear na normal mobility diminished reflexes EMG slightly status (possible mosaic): not symptoms abnormal affected? F26/F/17 2-5 (early na abnormal pronounced distal prominent onset) mobility muscle wasting and sensory proximal weakness abnormalities F27/M/44 early onset na walking muscle wasting and none homozygous mutation difficulties weakness F39/F/40 Teenage na steppage gait, distal > proximal LL , Intermittent homozygous mutation proximal UL muscle wasting stabbing pain weakness, and weakness, total in hands and bilateral AFO’s denervation distal LL legs, and cane severely impaired sensory exam hand function and and EMG grip normal

F40/F/25 19 na normal gait but wheelchair, UL normal orthopaedic surgery – prolongation unable on the =almost normal, of both Achilles tendons (at the age heels on LL = distal of 21 years) – with complications weakness and wasting

Legend: na = not available, AFO = ankle foot orthoses, LL = lower limbs, UL = upper limbs, MRC = Muscle Research Council