Stiff person spectrum disorder
ORPHA:3198DiseaseNot applicableAdolescent, Adult, Childhood, Elderly, Infancy
Фенотипы (HPO)32
Очень частый (80–99%)5
HP:0000739Anxiety
HP:0000975Hyperhidrosis
HP:0002527Falls
HP:0003457EMG abnormality
HP:0011964Intermittent painful muscle spasms
Частый (30–79%)19
HP:0000712Emotional lability
HP:0000756Agoraphobia
HP:0001288Gait disturbance
HP:0001336Myoclonus
HP:0001347Hyperreflexia
HP:0002015Dysphagia
HP:0002019Constipation
HP:0002063Rigidity
HP:0002267Exaggerated startle response
HP:0003326Myalgia
HP:0012894Paraspinal muscle hypertrophy
HP:0030057Autoimmune antibody positivity
HP:0100543Cognitive impairment
HP:5000002Anti-Amphiphysin antibody
HP:5000007Anti-DPPX antibody
HP:5000011Anti-GAD65 antibody
HP:5000012Anti-Gephyrin antibody
HP:5000014Anti-GlyR antibody
HP:0001288Gait disturbance
Периодический (5–29%)7
HP:0000651Diplopia
HP:0000819Diabetes mellitus
HP:0000821Hypothyroidism
HP:0002104Apnea
HP:0002321Vertigo
HP:0002938Lumbar hyperlordosis
HP:0031825Freezing of gait
Исключён (0%)1
HP:0012639Abnormal nervous system morphology
Эпидемиология3
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Point prevalence | 1-9 / 1 000 000 | — | Europe | Class only |
| Point prevalence | 1-9 / 1 000 000 | 0.15 | United Kingdom | Value and class |
| Point prevalence | <1 / 1 000 000 | 0.09 | Tanzania, United Republic of | Value and class |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)