Plectin-related limb-girdle muscular dystrophy R17
ORPHA:254361DiseaseAutosomal recessiveChildhood
Ассоциированные гены1
Фенотипы (HPO)35
Очень частый (80–99%)1
HP:0009073Progressive proximal muscle weakness
Частый (30–79%)11
HP:0002359Frequent falls
HP:0002505Loss of ambulation
HP:0003202Skeletal muscle atrophy
HP:0003236Elevated circulating creatine kinase concentration
HP:0003325Limb-girdle muscle weakness
HP:0003391Gowers sign
HP:0003458EMG: myopathic abnormalities
HP:0003551Difficulty climbing stairs
HP:0003749Pelvic girdle muscle weakness
HP:0040287Axial muscle atrophy
HP:0001270Motor delay
Периодический (5–29%)13
HP:0001263Global developmental delay
HP:0001284Areflexia
HP:0001488Bilateral ptosis
HP:0001611Hypernasal speech
HP:0001771Achilles tendon contracture
HP:0002015Dysphagia
HP:0002194Delayed gross motor development
HP:0003324Generalized muscle weakness
HP:0008981Calf muscle hypertrophy
HP:0009053Distal lower limb muscle weakness
HP:0025435Increased circulating lactate dehydrogenase concentration
HP:0040266Proximal upper limb muscle hypertrophy
HP:0430025Bilateral facial palsy
Очень редкий (1–4%)8
HP:0001626Abnormality of the cardiovascular system
HP:0002086Abnormality of the respiratory system
HP:0002206Pulmonary fibrosis
HP:0002875Exertional dyspnea
HP:0004631Decreased cervical spine flexion due to contractures of posterior cervical muscles
HP:0011712Right bundle branch block
HP:0011950Bronchiolitis
HP:0100750Atelectasis
Исключён (0%)2
HP:0000951Abnormality of the skin
HP:0030208Acetylcholine receptor antibody positivity
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 6 | Worldwide | Case(s) |
| 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)