Rigid spine syndrome
ORPHA:97244DiseaseAutosomal recessiveInfancy, Neonatal
Ассоциированные гены2
Фенотипы (HPO)20
Очень частый (80–99%)7
HP:0000467Neck muscle weakness
HP:0001290Generalized hypotonia
HP:0002093Respiratory insufficiency
HP:0002650Scoliosis
HP:0003198Myopathy
HP:0003306Spinal rigidity
HP:0011842Abnormality of skeletal morphology
Частый (30–79%)10
HP:0001265Hyporeflexia
HP:0002090Pneumonia
HP:0002421Poor head control
HP:0002987Elbow flexion contracture
HP:0003089Hamstring contractures
HP:0003202Skeletal muscle atrophy
HP:0003273Hip contracture
HP:0003307Hyperlordosis
HP:0030878Abnormality on pulmonary function testing
HP:0031546Cardiac conduction abnormality
Периодический (5–29%)3
HP:0001263Global developmental delay
HP:0002515Waddling gait
HP:0003391Gowers sign
Эпидемиология3
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Prevalence at birth | Unknown | — | Worldwide | Class only |
| Point prevalence | Unknown | — | Worldwide | Class only |
| Point prevalence | 1-9 / 1 000 000 | 0.13 | United Kingdom | Value and class |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)