Glycogen storage disease due to acid maltase deficiency
ORPHA:365DiseaseAutosomal recessiveAdolescent, Adult, Antenatal, Childhood, Infancy, Neonatal
Фенотипы (HPO)72
Очень частый (80–99%)4
HP:0001324Muscle weakness
HP:0009073Progressive proximal muscle weakness
HP:0010471Oligosacchariduria
HP:0034932Decreased circulating acid maltase activity
Частый (30–79%)31
HP:0001288Gait disturbance
HP:0000338Hypomimic face
HP:0000750Delayed speech and language development
HP:0001265Hyporeflexia
HP:0001270Motor delay
HP:0001284Areflexia
HP:0001308Tongue fasciculations
HP:0001508Failure to thrive
HP:0001510Growth delay
HP:0001640Cardiomegaly
HP:0001712Left ventricular hypertrophy
HP:0002093Respiratory insufficiency
HP:0002205Recurrent respiratory infections
HP:0002240Hepatomegaly
HP:0002747Respiratory insufficiency due to muscle weakness
HP:0002875Exertional dyspnea
HP:0003236Elevated circulating creatine kinase concentration
HP:0003326Myalgia
HP:0003391Gowers sign
HP:0003458EMG: myopathic abnormalities
HP:0003546Exercise intolerance
HP:0003551Difficulty climbing stairs
HP:0007340Lower limb muscle weakness
HP:0008872Feeding difficulties in infancy
HP:0011947Respiratory tract infection
HP:0012378Fatigue
HP:0025435Increased circulating lactate dehydrogenase concentration
HP:0030148Heart murmur
HP:0030231Glycogen accumulation in muscle fiber lysosomes
HP:0031964Elevated circulating alanine aminotransferase concentration
HP:0100595Camptocormia
Периодический (5–29%)32
HP:3000062Abnormal internal carotid artery morphology
HP:0000158Macroglossia
HP:0000183Tongue muscle weakness
HP:0000297Facial hypotonia
HP:0000365Hearing impairment
HP:0000508Ptosis
HP:0000939Osteoporosis
HP:0001260Dysarthria
HP:0001639Hypertrophic cardiomyopathy
HP:0002015Dysphagia
HP:0002098Respiratory distress
HP:0002326Transient ischemic attack
HP:0002540Inability to walk
HP:0002633Vasculitis
HP:0002650Scoliosis
HP:0002878Respiratory failure
HP:0003307Hyperlordosis
HP:0003324Generalized muscle weakness
HP:0004944Dilatation of the cerebral artery
HP:0005165Shortened PR interval
HP:0005216Impaired mastication
HP:0006824Cranial nerve paralysis
HP:0008947Floppy infant
HP:0009113Diaphragmatic weakness
HP:0010535Sleep apnea
HP:0012532Chronic pain
HP:0012727Thoracic aortic aneurysm
HP:0012764Orthopnea
HP:0030195Fatigable weakness of swallowing muscles
HP:0030196Fatigable weakness of respiratory muscles
HP:0031310Basilar artery calcification
HP:0032092Left ventricular outflow tract obstruction
Очень редкий (1–4%)5
HP:0001371Flexion contracture
HP:0002607Bowel incontinence
HP:0007002Motor axonal neuropathy
HP:0100543Cognitive impairment
HP:0100750Atelectasis
Эпидемиология14
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Prevalence at birth | 1-9 / 1 000 000 | 0.8 | Europe | Value and class |
| Prevalence at birth | 1-9 / 1 000 000 | 0.17 | Portugal | Value and class |
| Prevalence at birth | 1-9 / 1 000 000 | 0.83 | Italy | Value and class |
| Prevalence at birth | 1-9 / 100 000 | 2.25 | Netherlands | Value and class |
| Prevalence at birth | 1-9 / 1 000 000 | 0.37 | Czech Republic | Value and class |
| Prevalence at birth | 1-5 / 10 000 | 11.5 | Austria | Value and class |
| Prevalence at birth | 1-9 / 100 000 | 2.5 | United States | Value and class |
| Prevalence at birth | 1-9 / 1 000 000 | 0.68 | Australia | Value and class |
| Prevalence at birth | 1-9 / 100 000 | 2 | China | Value and class |
| Point prevalence | Unknown | — | Worldwide | Class only |
| Prevalence at birth | 1-9 / 1 000 000 | 0.72 | Sweden | Value and class |
| Prevalence at birth | 1-9 / 100 000 | 2.3 | Israel | Value and class |
| Prevalence at birth | 1-9 / 100 000 | 4.8 | Specific population | Value and class |
| Point prevalence | 1-9 / 100 000 | 3 | Europe | Value and class |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)