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 | |
Haemophilia | 1–9/100,000 | 7 | |
Duchenne muscular dystrophy | 1–9/100,000 | 5 | |
Cystic fibrosis | 1–9/100,000 | 4 | |
Chronic inflammatory demyelinating polyradiculoneuropathy | 1–9/100,000 | 3 | |
Idiopathic pulmonary fibrosis | 1–5/10,000 | 2 | |
Juvenile idiopathic arthritis (JIA) | 1–9/100,000 | 2 | |
Prader-Willi syndrome | 1–9/100,000 | 2 | |
Systemic sclerosis | 1–5/10,000 | 2 | |
Tuberous sclerosis complex | 1–5/10,000 | 2 | |
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] |