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Table 1 Nerve conduction studies

From: Specific combination of compound heterozygous mutations in 17β-hydroxysteroid dehydrogenase type 4 (HSD17B4) defines a new subtype of D-bifunctional protein deficiency

 

Normal

Patient 1

Patient 2

  

Age at study

 
  

12 years

13 years

16 years

13 ½ years

MOTOR:

     

Median nerve

     

 DML (wrist to APB)

< 4.2

 

3.6

5.4

3.4

 CMAP (mV)

≥ 3.9

 

9.2

4.1

8.6

 CV (m/sec)

> 47

 

27

27

33

Ulnar nerve

     

 DML (msec; wrist to ADM)

< 3.4

2.6

3.1

3.6

2.2

 CMAP (mV)

≥ 5.9

13.1

12.7

4.6

7.7

 CV (m/sec)

> 47

25

27

23

24

Tibial nerve

     

 DML (msec; ankle to AH)

< 6.0

5.3

6.2

10.5

4.5

 CMAP (mV)

≥ 3.9

3.3

3.6

0.5

6.6

 CV (m/sec)

> 39

21

22

15

26

Peroneal nerve

     

 DML (msec; ankle to EDB)

< 6.0

5.0

 

8.5

4.5

 CMAP (mV)

≥ 2.4

1.7

 

0.8

2.9

 CV (m/sec)

> 39

22

 

17

43

SENSORY:

     

Median nerve

     

 PL (msec; wrist to digit-II)

< 3.2

2.5

2.8

3.4

2.1

 SNAP (μV)

≥ 14

67

69

15

36

 CV (m/sec)

 

46

39

40

52

Ulnar nerve

     

 PL (msec; wrist to digit-V)

< 3.3

2.0

2.2

3.1

2.2

 SNAP (μV)

≥ 9

43

64

26

44

 CV (m/sec)

 

47

50

35

43

Sural nerve

     

 PL (msec; calf to lat mall)

< 4.2

3.8

3.0

NR

2.7

 SNAP (μV)

≥ 5

11

17

NR

9.5

 CV (m/sec)

 

42

40

NR

35

  1. Bold and underlined values are abnormal. All sensory responses are antidromic.
  2. Legend: DML=distal onset motor latency; CMAP=compound motor action potential; CV=conduction velocity; PL=peak onset latency; APB=abductor pollicus brevis; ADM=abductor digiti minimi; AH=abductor hallucis; EDB=extensor digitorum brevis; NR=no response.