Laminin subunit alpha 2-related congenital muscular dystrophy
ORPHA:258Malformation syndromeAutosomal recessiveAntenatal, Infancy, Neonatal
Ассоциированные гены1
Фенотипы (HPO)54
Очень частый (80–99%)16
HP:0003560Muscular dystrophy
HP:0001252Hypotonia
HP:0001270Motor delay
HP:0001324Muscle weakness
HP:0001612Weak cry
HP:0001939Abnormality of metabolism/homeostasis
HP:0002020Gastroesophageal reflux
HP:0002375Hypokinesia
HP:0002540Inability to walk
HP:0002878Respiratory failure
HP:0003560Muscular dystrophy
HP:0009025Increased connective tissue
HP:0030091Absent muscle fiber merosin
HP:0030234Highly elevated creatine kinase
HP:0100295Muscle fiber atrophy
HP:0100614Myositis
Частый (30–79%)13
HP:0000158Macroglossia
HP:0001249Intellectual disability
HP:0001250Seizure
HP:0001371Flexion contracture
HP:0002181Cerebral edema
HP:0002446Astrocytosis
HP:0002783Recurrent lower respiratory tract infections
HP:0002835Aspiration
HP:0003457EMG abnormality
HP:0005216Impaired mastication
HP:0010628Facial palsy
HP:0010754Abnormality of the temporomandibular joint
HP:0012747Abnormal brainstem MRI signal intensity
Периодический (5–29%)23
HP:0000194Open mouth
HP:0000649Abnormality of visual evoked potentials
HP:0001302Pachygyria
HP:0001315Reduced tendon reflexes
HP:0001319Neonatal hypotonia
HP:0001339Lissencephaly
HP:0001638Cardiomyopathy
HP:0002015Dysphagia
HP:0002058Myopathic facies
HP:0002121Generalized non-motor (absence) seizure
HP:0002650Scoliosis
HP:0002791Hypoventilation
HP:0003307Hyperlordosis
HP:0004325Decreased body weight
HP:0004878Intercostal muscle weakness
HP:0006879Pontocerebellar atrophy
HP:0007141Sensorimotor neuropathy
HP:0007359Focal-onset seizure
HP:0010808Protruding tongue
HP:0011675Arrhythmia
HP:0012664Reduced left ventricular ejection fraction
HP:0100543Cognitive impairment
HP:0100750Atelectasis
Очень редкий (1–4%)2
HP:0002092Pulmonary arterial hypertension
HP:0002093Respiratory insufficiency
Эпидемиология4
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Point prevalence | 1-9 / 1 000 000 | 0.2 | Eastern Mediterranean Asia | Value and class |
| Point prevalence | 1-9 / 100 000 | 1 | Europe | Value and class |
| Point prevalence | 1-9 / 1 000 000 | 0.8 | Worldwide | Value and class |
| Point prevalence | 1-9 / 1 000 000 | 0.6 | United Kingdom | Value and class |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)