Table 4. [SH3TC2-Related Hereditary Motor and Sensory Neuropathy: Additional Clinical Findings by Study]. - GeneReviews®

Clinical Finding	Study (Total Persons)
Hypoacusis	5/28	0/14	2/18	0/6	0/9	0/15	8/13	15/103
Deafness	0/28	5/14	1/18	2/6	1/9	3/15	0/13	12/103
Nystagmus	0/28	0/14	2/18	0/6	2/9	0/15	0/13	4/103
Pupillary light reflexes	0/28	3/14	0/18	1/6	0/9	0/15	14/13	4/20
Other pupillary disturbances	–	–	–	Asymmetric size 1/6	–	–	–	1/6
Lingual fasciculation	–	3/14	–	–	–	–	–	3/14
Tongue atrophy &/or weakness	–	–	–	1/6	–	–	2/13	3/19
Facial paresis	1/28	–	–	1/6	1/9	–	4/13	7/56
Facial weakness	–	–	–	1/6	–	–	–	1/6
Head tremor	–	2/14	–	–	–	–	–	2/14
Vocal cord involvement	–	–	–	–	–	–	1/13	1/13
Total persons w/cranial nerve involvement	5/28	9/14	5/14 ¹	4/6	–	–	10/13	33/73
Respiratory insufficiency / Hypoventilation	7/28 ²	–	2/18	–	1/9	–	–	10/55
Sensory ataxia	1/28	2/14	–	–	–	–	–	>3/42 ³
Diabetes mellitus	–	–	1/18	–	–	–	–	1/18
Romberg sign	–	2/14	–	–	–	–	–	2/14

Clinical Finding

Study (Total Persons)

Azzedine et al [2006] (28)

Colomer et al [2006] (14)

Senderek et al [2003] (18)

Houlden et al [2009] (6)

Baets et al [2011] (9)

Laššuthová et al [2011] (16)

Yger et al [2012] (14)

Cumulative Data

Hypoacusis

5/28

0/14

2/18

0/6

0/9

0/15

8/13

15/103

Deafness

0/28

5/14

1/18

2/6

1/9

3/15

0/13

12/103

Nystagmus

0/28

0/14

2/18

0/6

2/9

0/15

0/13

4/103

Pupillary light reflexes

0/28

3/14

0/18

1/6

0/9

0/15

14/13

4/20

Other pupillary disturbances

–

Asymmetric size 1/6

–

1/6

Lingual fasciculation

–

3/14

–

3/14

Tongue atrophy &/or weakness

–

1/6

–

2/13

3/19

Facial paresis

1/28

–

1/6

1/9

–

4/13

7/56

Facial weakness

–

1/6

–

1/6

Head tremor

–

2/14

–

2/14

Vocal cord involvement

–

1/13

Total persons w/cranial nerve involvement

5/28

9/14

5/14 ¹

4/6

–

10/13

33/73

Respiratory insufficiency /
Hypoventilation

7/28 ²

–

2/18

–

1/9

–

10/55

Sensory ataxia

1/28

2/14

–

>3/42 ³

Diabetes mellitus

–

1/18

–

1/18

Romberg sign

–

2/14

–

2/14

From: SH3TC2-Related Hereditary Motor and Sensory Neuropathy

GeneReviews^® [Internet].

Adam MP, Feldman J, Mirzaa GM, et al., editors.

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