Table 2 Clinical summaries of 41 Chinese Krabbe disease patients
From: GALC mutations in Chinese patients with late-onset Krabbe disease: a case report
Patient No. | Sex | Age of Onset | Main symtoms | Reference |
|---|---|---|---|---|
1 | F | 2 W | cry less, eat less, move less, poor response to environment | [11] |
2 | M | 2 M | lose the ability to hold up his head, mental and motor regression | [16] |
3 | M | 3 M | lose the ability to hold up his head, hearing impairment, irritability and excessive crying | [20] |
4 | F | 4 M | lose the ability to hold up her head, irritability and excessive crying | [12] |
5 | M | 4 M | lose the ability to hold up his head, irritability and excessive crying | [18] |
6 | F | 4 M | Psychomotor regression,dyspepsia, feeding difficulties, irritability,hearing and vision impairment | [11] |
7 | F | 4 M | irritability, feeding difficulties, vision impairment, convulsion opisthotonus | [11] |
8 | M | 6 M | Paroxysmal rigidity of the extremities, mental regression | [11] |
9 | F | 7 M | psychomotor regression | [11] |
10 | M | 8 M | developmental delay, hypertonia of the extremities, vision impairment | [11] |
11 | F | 10 M | motor regression, language development delay, hearing and vision impairment | [11] |
12 | F | 1Y | motor regression, rigidity | [12] |
13 | F | 1Y | language development delay, muscle weakness | [11] |
14 | M | 1Y2 M | psychomotor regression, language development delay | [11] |
15 | M | 15 M | muscle weakness, walking impairment | [11] |
16 | F | 2Y | mental and motor regression, vision impairment | [12] |
17 | M | 2Y | mental and motor regression, vision impairment | [15] |
18 | M | 2Y | psychomotor regression, rapid vision loss | [11] |
19 | F | 2Y5M | seizure, psychomotor regression | [11] |
20 | M | 2Y8 M | mental and motor regression | [19] |
21 | F | 3Y2 M | psychomotor regression, vision impairment, dyspepsia, feeding difficulties | [11] |
22 | M | 3Y5M | motor regression, seizure | [13] |
23 | M | 3Y11M | walking impairment | [11] |
24 | F | 4Y | mental regression, motor regression, spastic gait disturbance and dysarthria | Patient 2 |
25 | M | 5Y | spastic gait disturbance and vision impairment | Patient 1 |
26 | M | 5Y | weakness of both lower limbs | [15] |
27 | M | 5Y | muscle weakness, walking impairment | [11] |
28 | M | 8Y10 M | walking and vision impairment | [11] |
29 | M | 12Y | spastic gait disturbance, weakness of both lower limbs | [21] |
30 | M | 20Y | weakness of left lower limb | [17] |
31 | F | 20Y | psychomotor regression, aphasia | [11] |
32 | F | 29Y | weakness of right lower limb | [20] |
33 | F | 30Y | spastic gait disturbance,weakness of both lower limbs | [21] |
34 | F | 37Y | weakness of the left upper limb, walking impairment | [10] |
35 | F | 38Y | weakness of both lower limbs, rigidity | [14] |
36 | M | 45Y | numbness and weakness of both lower limbs, rigidity | [14] |
37 | M | unknown | motor regression | [11] |
38 | F | unknown | psychomotor regression | [11] |
39 | M | unknown | mental regression, walking impairment, hearing and vision impairment | [11] |
40 | M | unknown | left limb movement disorder | [11] |
41 | M | unknown | walking impairment | [11] |