Table 3 A summary of the clinical features of patients with biallelic pathogenic variants in the SORD gene.

From: Biallelic variants in the SORD gene are one of the most common causes of hereditary neuropathy among Czech patients

Clinical feature

Number of patients with clinical features/total number of tested individuals

Pes cavus deformity

14/15

Lower limb atrophy

11/11

Lower limb weakness

Proximal

5/8

Distal

15/15

Lower limb reflexes (L2-L4)

Decreased

8/12

Absent

3/12

Lower limb reflexes (L5-S2)

Decreased

1/13

Absent

11/13

Use of walking aids

1/10

Upper limb atrophy

7/14

Upper limb weakness

Proximal

1/8

Distal

8/13

Upper limb reflexes

Decreased

7/10

Absent

1/10

Light tremor of hands*

3

Sensory impairment

Loss of vibration

10/13

Tactile hypesthesia

4/13

Thermic hypesthesia

4/13

Impairment of recognition of sharp and dull objects

1/13

Paresthesia

1/13

Scoliosis*

1

  1. Total individuals tested = 18.
  2. In total, 18 patients were included. The number of patients with a particular clinical sign are shown in the second column. The total number of patients tested for a particular sign is shown after the forward slash. For some of the patients, the information was not available. For some clinical signs - marked with *- only the number of patients with positive signs is given.
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