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Table 2 Medians of the total knowledge score by the 34 rare diseases of concern

From: Physicians’ knowledge on specific rare diseases and its associated factors: a national cross-sectional study from China

Type of rare diseases

No. of physicians (%)

Total

Eastern

Central

Western

Median (IQR)

Albinism

466 (14.58%)

2.00 (2.00)

2.00 (2.00)

2.00 (2.00)

2.00 (1.00)

Hepatolenticular degeneration

379 (11.85%)

2.00 (1.00)

2.00 (1.00)

2.00 (1.00)

2.00 (1.00)

Multiple sclerosis

347 (10.85%)

1.00 (1.00)

1.00 (1.00)

1.00 (0.00)

1.00 (0.00)

Hemophilia

293 (9.16%)

3.00 (1.00)

3.00 (1.00)

3.00 (1.00)

3.00 (1.00)

Marfan syndrome

224 (7.01%)

2.00 (0.00)

2.00 (0.00)

2.00 (0.00)

2.00 (0.00)

Idiopathic pulmonary arterial hypertension

168 (5.25%)

2.00 (1.00)

2.00 (1.00)

2.00 (1.00)

2.00 (0.50)

Systemic sclerosis

152 (4.75%)

2.00 (1.00)

2.00 (1.00)

2.00 (1.00)

2.00 (1.25)

General myathenic gravis

146 (4.57%)

2.00 (2.00)

2.00 (1.00)

1.50 (1.75)

2.00 (2.00)

Amyotrophic lateral sclerosis

124 (3.88%)

1.00 (1.00)

1.00 (1.00)

1.00 (1.00)

2.00 (0.00)

Osteogenesis imperfecta

118 (3.69%)

1.00 (1.00)

1.00 (1.00)

1.50 (1.00)

2.50 (1.25)

Langerhans cell histiocytosis

110 (3.44%)

2.00 (1.00)

3.00 (1.00)

2.00 (1.00)

2.00 (1.00)

Neuromyelitis optica

89 (2.78%)

2.00 (0.00)

2.00 (0.00)

2.00 (0.00)

2.00 (0.50)

Phenylketonuria

71 (2.22%)

1.00 (1.00)

1.00 (1.00)

1.00 (1.00)

0.00 (0.50)

Duchenne muscular dystrophy

67 (2.10%)

2.00 (0.50)

2.00 (1.00)

2.00 (0.00)

1.00 (1.00)

Lymphangioleiomyomatosis

57 (1.78%)

2.00 (1.00)

2.00 (1.00)

2.00 (0.25)

2.00 (0.00)

Idiopathic hypogonadotropic hypogonadism

49 (1.53%)

2.00 (1.00)

2.00 (0.00)

1.00 (1.00)

2.00 (0.00)

Prader–Willi syndrome

46 (1.44%)

1.00 (1.00)

1.00 (0.75)

1.00 (1.00)

2.00 (2.00)

Congenital adrenal hypoplasia

44 (1.38%)

2.00 (1.00)

2.00 (1.00)

2.00 (1.00)

2.00 (0.00)

Tuberous sclerosis complex

38 (1.19%)

2.00 (0.00)

2.00 (0.75)

2.00 (0.00)

2.00 (0.25)

Spinal muscular atrophy

30 (0.94%)

1.50 (1.00)

2.00 (1.00)

1.00 (1.00)

1.50 (0.50)

Kallmann syndrome

26 (0.81%)

2.00 (1.00)

2.00 (1.00)

2.00 (0.25)

1.50 (1.25)

Homozygous hypercholesterolemia

25 (0.78%)

2.00 (1.00)

2.00 (0.75)

1.00 (1.00)

2.00 (0.50)

Hereditary epidermolysis bullosa

23 (0.72%)

2.00 (1.00)

2.00 (1.00)

1.00 (1.00)

–

Fabry disease

20 (0.63%)

2.00 (0.25)

2.00 (0.00)

2.00 (0.75)

2.00 (1.00)

Huntington disease

17 (0.53%)

2.00 (1.00)

2.00 (1.00)

2.00 (1.00)

1.00 (0.50)

Gaucher disease

16 (0.50%)

2.00 (1.25)

2.00 (1.00)

3.00 (0.75)

2.00 (0.00)

Spinocerebellar ataxia

15 (0.47%)

1.00 (1.50)

1.00 (2.00)

0.50 (1.00)

0.50 (0.50)

Niemann-Pick disease

12 (0.38%)

3.00 (1.00)

3.00 (1.00)

3.00 (1.00)

–

Mucopolysaccharidosis

6 (0.19%)

2.00 (0.75)

2.00 (0.00)

2.50 (0.50)

2.50 (0.50)

Severe myoclonic epilepsy in infaricy

6 (0.19%)

2.00 (1.50)

2.00 (0.00)

1.00 (1.00)

2.00 (1.00)

Hyperphenylalaninemia

5 (0.16%)

2.00 (1.00)

1.00 (0.00)

2.50 (0.50)

2.00 (0.00)

Spinal and bulbar muscular atrophy

4 (0.13%)

1.00 (0.25)

0.50 (0.50)

1.00 (0.00)

–

Type II glycogen storage disease

3 (0.09%)

1.00 (0.50)

1.00 (0.00)

1.50 (0.50)

–

Tetrahydrobiopterin deficiency

1 (0.03%)

1.00 (0.00)

1.00 (0.00)

–

–

  1. –No physicians answered the relevant knowledge questions
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Orphanet Journal of Rare Diseases

ISSN: 1750-1172