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Table 2 Included cost-of-illness studies per disease

From: Cost-of-illness studies in rare diseases: a scoping review

Disease or group of diseases Prevalence Number of studies References
Amyotrophic lateral sclerosis (ALS) 1–9/100,000 8 [11, 12, 19, 24, 34, 41, 48, 62]
Haemophilia 1–9/100,000 7 [21, 28, 44, 49, 51, 66, 69]
Duchenne muscular dystrophy 1–9/100,000 5 [34, 54, 55, 60, 61]
Cystic fibrosis 1–9/100,000 4 [30, 46, 63, 71]
Chronic inflammatory demyelinating polyradiculoneuropathy 1–9/100,000 3 [13, 42, 43]
Idiopathic pulmonary fibrosis 1–5/10,000 2 [68, 72]
Juvenile idiopathic arthritis (JIA) 1–9/100,000 2 [31, 45]
Prader-Willi syndrome 1–9/100,000 2 [37, 56]
Systemic sclerosis 1–5/10,000 2 [22, 38]
Tuberous sclerosis complex 1–5/10,000 2 [29, 58]
Achalasia (Idiopathic achalasia) 1–9/100,000 1 [47]
Acromegaly 1–9/100,000 1 [35]
Autosomal dominant polycystic kidney disease 1–5/10,000 1 [16]
Becker muscular dystrophy 1–9/100,000 1 [54]
Behçet’s syndrome 1–9/100,000 1 [59]
Common variable immunodeficiency 1–9/100,000 1 [53]
Congenital hyperinsulinism 1–9/100,000 1 [15]
Cushing disease 1–9/100,000 1 [33]
Dermatomyositis 1–9/100,000 1 [32]
Dravet syndrome 1–9/100,000 1 [64]
Epidermolysis bullosa 1–9/100,000 1 [10]
Fragile x syndrome 1–5/10,000 1 [70]
Frontotemporal degeneration 1–5/10,000 1 [18]
Guillain-Barré syndrome 1–9/100,000 1 [17]
Hereditary angioedema 1–9/100,000 1 [65]
Histiocytosis 1–9/100,000 1 [27]
Lysosomal acid lipase deficiency, Cholesteryl ester storage disease type 1–9/100,000 1 [20]
Mucopolysaccharidosis Depends on the type* 1 [50]
Multifocal motor neuropathy 1–9/100,000 1 [42]
Multiple system atrophy 1–9/100,000 1 [67]
Myotonic dystrophy 1–9/100,000 1 [34]
Narcolepsy-cataplexy syndrome 1–5/10,000 1 [26]
Niemann-Pick disease type C 1–9/100,000 1 [25]
Paraproteinaemic demyelinating neuropathy 1–9/100,000 1 [42]
Pemphigus Depends on the type ** 1 [23]
Phenylketonuria (PKU) 1–5/10,000 1 [14]
Primary childhood glaucoma and secondary childhood glaucoma 1–9/100,000 1 [36]
Progressive supranuclear palsy 1–9/100,000 1 [67]
Pulmonary arterial hypertension 1–9/100,000 1 [57]
Sarcoidosis 1–5/10,000 1 [52]
Spinal muscular atrophy 1–9/100,000 1 [39]
Spinocerebellar ataxias 1–9/100,000 1 [40]
  1. The sum is higher than 63 because 4 studies included more than one disease that fulfilled our inclusion criteria
  2. *Type 1, Type 3, Type 6: 1–9/100,000; Type 2, Type 4: 1–5/10,000; Type 7: < 1 per million
  3. **Superficial pemphigus: 1–9/100,000; pemphigus vulgaris: 1–5/10,000