Disease group | Representative individual diseases | Estimated number of patients in Japan per year (age 0 to 24 months) |
---|---|---|
Pulmonary hypoplasia | Congenital diaphragmatic hernia Congenital cystic lung disease | ~ 1000 |
Airway stenosis | Pharyngeal stenosis Laryngeal stenosis Airway/bronchial stenosis Airway/bronchial malacia | ~ 500 |
Congenital esophageal atresia | Congenital esophageal atresia | ~ 200 |
Inherited metabolic disease | Diseases affecting gluconeogenesis or the glycolytic energy production pathway (e.g., fatty acid oxidation disorders and carnitine cycle disorders) Diseases associated with mitochondrial abnormalities (e.g., mitochondrial respiratory chain disorders) Diseases affecting the metabolism of amino acids or proteins (e.g., organic acid metabolism disorders and urea cycle disorders) Lysosomal diseases Peroxisomal diseases | 250 to 300 |
Neuromuscular disease | - Muscular dystrophy - Congenital myopathy - Spinal muscular atrophy - Myotonic dystrophy - Myasthenic syndrome | ~ 300 |