Infantile-onset X-linked spinal muscular atrophy
ORPHA:1145DiseaseX-linked recessiveNeonatal
Ассоциированные гены1
Фенотипы (HPO)37
Очень частый (80–99%)7
HP:0001284Areflexia
HP:0002033Poor suck
HP:0002398Degeneration of anterior horn cells
HP:0003202Skeletal muscle atrophy
HP:0003445EMG: neuropathic changes
HP:0004303Abnormal muscle fiber morphology
HP:0006802Abnormal anterior horn cell morphology
Частый (30–79%)18
HP:0000218High palate
HP:0000773Short ribs
HP:0000887Cupped ribs
HP:0001220Interphalangeal joint contracture of finger
HP:0002058Myopathic facies
HP:0002093Respiratory insufficiency
HP:0002098Respiratory distress
HP:0002425Anarthria
HP:0002804Arthrogryposis multiplex congenita
HP:0002987Elbow flexion contracture
HP:0003273Hip contracture
HP:0003701Proximal muscle weakness
HP:0006380Knee flexion contracture
HP:0006466Ankle flexion contracture
HP:0007269Spinal muscular atrophy
HP:0008947Floppy infant
HP:0009071Inflammatory myopathy
HP:0020110Bone fracture
Периодический (5–29%)11
HP:0000028Cryptorchidism
HP:0001290Generalized hypotonia
HP:0001308Tongue fasciculations
HP:0002009Potter facies
HP:0002460Distal muscle weakness
HP:0002518Abnormal periventricular white matter morphology
HP:0002751Kyphoscoliosis
HP:0003324Generalized muscle weakness
HP:0007178Motor polyneuropathy
HP:0008180Mildly elevated creatine kinase
HP:0030319Weakness of facial musculature
Очень редкий (1–4%)1
HP:0100543Cognitive impairment
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 14 | Worldwide | Family(ies) |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)