TABLE 2.
COVID‐19 and rare diseases in Brazil: most frequently reported diseases (n = 1,466) a
| Disease | n (%) |
|---|---|
| Phenylketonuria | 95 (6.5) |
| Porphyrias | 83 (5.7) |
| Acute intermittent | 55 (66.3) |
| Cutanea tarda | 5 (6.0) |
| Erythropoietic | 4 (4.8) |
| Variegata | 4 (4.8) |
| Hereditary coproporphyria | 2 (2.4) |
| Not specified | 13 (15.7) |
| Hepatic glycogen storage disease (GSD) | 81 (5.5) |
| GSD I, subtype not specified | 47 (58.0) |
| GSD III | 5 (6.2) |
| Type not specified | 29 (35.8) |
| Spinal muscular atrophy (SMA) | 80 (5.5) |
| Mucopolysaccharidosis (MPS) | 66 (4.5) |
| VI | 15 (22.7) |
| I | 14 (21.2) |
| II | 14 (21.2) |
| IV, subtype not specified | 11 (16.7) |
| Type not specified | 12 (18.2) |
| Congenital adrenal hyperplasia | 47 (3.2) |
| Classical | 14 (29.8) |
| Non‐classical | 1 (2.1) |
| Type not specified | 32 (68.1) |
| Prader‐Willi syndrome | 47 (3.2) |
| Ataxias | 45 (3.1) |
| Spinocerebellar (SCA) | 29 (64.5) |
| SCA 1 | 1 (3.4) |
| SCA 2 | 1 (3.4) |
| SCA 3 | 24 (82.8) |
| SCA 6 | 1 (3.4) |
| Type not specified | 2 (7.0) |
| Friedreich | 6 (13.3) |
| Ataxia–telangiectasia | 1 (2.2) |
| Type not specified | 9 (20) |
| Cystic fibrosis | 40 (2.7) |
| Gaucher disease | 33 (2.2) |
| Williams syndrome | 31 (2.1) |
| Osteogenesis imperfecta | 30 (2.0) |
| Other (n = 180) | 788 (53.8) |
a
Disease groups corresponding to a minimum of 30 participants were cited individually.