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Table 1 Clinical manifestations of Hereditary spastic paraplegia in members of the Siberian family

From: Adult-onset autosomal dominant spastic paraplegia linked to a GTPase-effector domain mutation of dynamin 2

Patient

II:6

III:3

III:5

III:7

IV:1

Age at Onset, yrs

29

26

27

37

10

Age at Exam, yrs

62

43

59

39

17

Presenting feature

Weakness spasticity

Weakness spasticity

Muscle weakness

Muscle weakness

Muscle weakness

Cognitive function

normal

forgetful

Cognitive delay (mild)

normal

normal

Bulbar dysfunctions

no

no

dysarthria

no

no

Leg Spasticity

++++

++++

++++

++

+++

Muscle contracture

-

-

+++

-

-

Muscle weakness (MRC scale):

     

Knee flexion

3.5

2.5

2

2

4

Knee extention

3.5

3

2

2

4.5

Ankle flexion

4

3

1.5

2.5

5

Ankle extention

3.5

3.5

1.5

2

5

Toes

3

3

1

1.5

3

Muscle wasting

++

++

++

-

-

Hyperactive reflexes:

     

Knee

+++

++

++

++

++

Ankle

++

+++

+++

++

+++

Clonus

-

+

+

+

+

Babinski sign

bilateral

no

bilateral

bilateral

bilateral

Decreased abdominal reflexes

no

no

++

no

no

Spastic gait

++++

++++

++++

++

+++

Pinprick

-

-

-

-

-

Vibration

+?

+

+

-

-

Bladder Control

Urinary urgency

normal

Urinary urgency

normal

normal

Pes cavus

+

+

+++

+

++

Ulcerations on legs

++

no

no

no

no

Outcome

Bedridden

Ambulatory

Wheelchair

Ambulatory

Ambulatory

  1. Footnote: "-" or "no" not observed, "+" sign expressed weakly, "++" and "+++" expressed moderately, "++++" expressed strongly, "+?" expressed intermittently, numbers - muscle strength assessment according to the Medical Research Council (MRC) grading scale