Neuralgic amyotrophy
ORPHA:2901DiseaseAutosomal dominant, Not applicableAdult
Ассоциированные гены1
Фенотипы (HPO)24
Очень частый (80–99%)6
HP:0001271Polyneuropathy
HP:0002829Arthralgia
HP:0003457EMG abnormality
HP:0003484Upper limb muscle weakness
HP:0009129Upper limb amyotrophy
HP:0012513Upper limb pain
Частый (30–79%)3
HP:0000912Sprengel anomaly
HP:0003401Paresthesia
HP:0003691Scapular winging
Периодический (5–29%)15
HP:0000160Narrow mouth
HP:0000175Cleft palate
HP:0000193Bifid uvula
HP:0000286Epicanthus
HP:0000311Round face
HP:0001063Acrocyanosis
HP:0001159Syndactyly
HP:0002093Respiratory insufficiency
HP:0002167Abnormality of speech or vocalization
HP:0002360Sleep abnormality
HP:0004322Short stature
HP:0005989Redundant neck skin
HP:0009830Peripheral neuropathy
HP:0012745Short palpebral fissure
HP:0033748Hypoesthesia
Эпидемиология4
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Annual incidence | 1-9 / 100 000 | 1.64 | United States | Value and class |
| Point prevalence | 1-5 / 10 000 | — | Europe | Class only |
| Annual incidence | 1-9 / 100 000 | 3 | United Kingdom | Value and class |
| Lifetime Prevalence | 1-5 / 10 000 | 30 | United Kingdom | Value and class |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)