Table 1 Percentage of people who have suffered diagnostic delays in Spain, according to type of RD (classified according to the organ or system mainly affected), along with examples of specific RDs or RD groups represented by more than 30 cases
From: Diagnostic delay in rare diseases: data from the Spanish rare diseases patient registry
Type of RD | RD or RD group | ICD10 | ORPHA code | n | Diagnostic delay (%) | ||
|---|---|---|---|---|---|---|---|
Total | Men–Women | Total (%) | Men–Women (%) | ||||
Diseases of the nervous system | Total | G00–G99 | 822 | 375–447 | 64.2 | 63.2–65.1 | |
Tarlov cyst | G58.9 | 65, 250 | 128 | 14–114 | 57.8 | 64.3–57.0 | |
Muscular dystrophies | G71.0 | 98, 473* | 90 | 52–38 | 67.8 | 59.6–78.9 | |
Hereditary ataxias | G11 | 183, 518* | 74 | 40–34 | 63.5 | 67.5–58.8 | |
Post-poliomyelitis syndrome | G14.0 | 2942 | 56 | 30–26 | 83.9 | 80.0–88.5 | |
Hereditary spastic paraplegia | G11.4 | 685* | 53 | 33–20 | 88.7 | 84.8–95.0 | |
Amyotrophic lateral sclerosis | G12.2 | 803 | 36 | 22–14 | 52.8 | 59.1–42.9 | |
Myasthenia gravis | G70.0 | 589 | 35 | 15–20 | 34.3 | 20.0–45.0 | |
Congenital malformations, deformations and chromosomal abnormalities | Total | Q00–Q99 | 700 | 308–392 | 48.4 | 45.8–50.5 | |
Arnold-Chiari malformation | Q07.0 | 1136, 268, 882 | 60 | 19–41 | 65.0 | 52.6–70.7 | |
Epidermolysis bullosa | Q81 | 304* | 38 | 20–18 | 44.7 | 40.0–50.0 | |
Diseases of the eye and adnexa | Total | H00–H59 | 668 | 349–319 | 62.9 | 57.6–68.7 | |
Retinitis pigmentosa | H35.5 | 791 | 384 | 185–199 | 65.1 | 61.1–68.8 | |
Stargardt disease | H35.5 | 827 | 72 | 35–37 | 56.9 | 48.6–64.9 | |
Usher syndrome | H35.5 | 886 | 55 | 32–23 | 76.4 | 71.9–82.6 | |
Cone-rod dystrophy | H35.5 | 1872 | 30 | 16–14 | 70.0 | 68.8–71.4 | |
Endocrine, nutritional and metabolic diseases | Total | E00–E90 | 267 | 131–136 | 55.4 | 48.9–61.8 | |
Diseases of the musculoskeletal system and connective tissue | Total | M00–M99 | 245 | 76–169 | 53.1 | 42.1–58.0 | |
Systemic sclerosis | M34 | 801* | 48 | 10–38 | 56.3 | 70.0–52.6 | |
Behçet’s disease | M35.2 | 117 | 31 | 9–22 | 71.0 | 55.6–77.3 | |
Sjögren-Larsson syndrome | M35.0 | 816 | 30 | 3–27 | 73.3 | 33.3–77.8 | |
Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism | Total | D50–D89 | 235 | 96–139 | 44.7 | 41.7–46.8 | |
Hereditary angioedema | D84.1 | 91, 378* | 108 | 40–68 | 55.6 | 47.5–60.3 | |
Sarcoidosis | D86 | 797 | 50 | 25–25 | 26.0 | 28.0–24.0 | |
Diseases of the circulatory system | Total | I00–I99 | 82 | 10–72 | 51.2 | 30.0–54.2 | |
Lymphangioleiomyomatosis | I89.8 | 538 | 46 | **− 46 | 56.5 | **− 56.5 | |
Mental and behavioural disorders | Total | F00–F99 | 77 | 38–39 | 78.0 | 76.0–79.0 | |
Neoplasms | Total | C00–D48 | 65 | 27–38 | 35.0 | 37.0–34.0 | |
Diseases of the genitourinary system | Total | N00–N99 | 43 | 5–38 | 67.0 | 60.0–68.0 | |
Diseases of the skin and subcutaneous tissue | Total | L00–L99 | 30 | 9–21 | 53.0 | 67.0–48.0 | |
Total | 3304 | 1454-1850 | 56.4 | 53.4-58.8 | |||