Idiopathic camptocormia
ORPHA:1320Morphological anomalyNot applicableAdult, Elderly
Фенотипы (HPO)33
Частый (30–79%)9
HP:0000707Abnormality of the nervous system
HP:0001332Dystonia
HP:0002059Cerebral atrophy
HP:0002500Abnormal cerebral white matter morphology
HP:0002758Osteoarthritis
HP:0003445EMG: neuropathic changes
HP:0003458EMG: myopathic abnormalities
HP:0005108Abnormal intervertebral disk morphology
HP:0100285EMG: impaired neuromuscular transmission
Периодический (5–29%)8
HP:0000234Abnormality of the head
HP:0001300Parkinsonism
HP:0003236Elevated circulating creatine kinase concentration
HP:0003444EMG: chronic denervation signs
HP:0006959Proximal spinal muscular atrophy
HP:0007354Amyotrophic lateral sclerosis
HP:0012647Abnormal inflammatory response
HP:0100022Abnormality of movement
Очень редкий (1–4%)16
HP:0002134Abnormality of the basal ganglia
HP:0002145Frontotemporal dementia
HP:0002486Myotonia
HP:0002511Alzheimer disease
HP:0002715Abnormality of the immune system
HP:0003396Syringomyelia
HP:0003398Abnormal synaptic transmission at the neuromuscular junction
HP:0003416Spinal canal stenosis
HP:0003737Mitochondrial myopathy
HP:0007361Abnormality of the pons
HP:0012486Myelitis
HP:0012548Fatty replacement of skeletal muscle
HP:0030113Abnormal muscle fiber dysferlin
HP:0030197Fatigable weakness of skeletal muscles
HP:0100315Lewy bodies
HP:0100614Myositis
Эпидемиология1
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)