Congenital myasthenic syndrome
ORPHA:590DiseaseAutosomal dominant, Autosomal recessiveInfancy, Neonatal
Фенотипы (HPO)68
Очень частый (80–99%)10
HP:0000467Neck muscle weakness
HP:0000508Ptosis
HP:0002015Dysphagia
HP:0002033Poor suck
HP:0002882Sudden episodic apnea
HP:0003473Fatigable weakness
HP:0003701Proximal muscle weakness
HP:0004661Frontalis muscle weakness
HP:0004889Intermittent episodes of respiratory insufficiency due to muscle weakness
HP:0011968Feeding difficulties
Частый (30–79%)20
HP:0001611Hypernasal speech
HP:0002205Recurrent respiratory infections
HP:0002804Arthrogryposis multiplex congenita
HP:0000602Ophthalmoplegia
HP:0000961Cyanosis
HP:0001249Intellectual disability
HP:0001251Ataxia
HP:0001283Bulbar palsy
HP:0001558Decreased fetal movement
HP:0002872Apneic episodes precipitated by illness, fatigue, stress
HP:0003324Generalized muscle weakness
HP:0003388Easy fatigability
HP:0004885Episodic respiratory distress
HP:0008443Spinal deformities
HP:0010536Central sleep apnea
HP:0011469Nasal regurgitation
HP:0030842Choking episodes
HP:0100285EMG: impaired neuromuscular transmission
HP:0100295Muscle fiber atrophy
HP:0001288Gait disturbance
Периодический (5–29%)20
HP:0000218High palate
HP:0000276Long face
HP:0001250Seizure
HP:0001252Hypotonia
HP:0001270Motor delay
HP:0001284Areflexia
HP:0001612Weak cry
HP:0001618Dysphonia
HP:0001761Pes cavus
HP:0002421Poor head control
HP:0002515Waddling gait
HP:0002751Kyphoscoliosis
HP:0003306Spinal rigidity
HP:0003325Limb-girdle muscle weakness
HP:0003458EMG: myopathic abnormalities
HP:0003693Distal amyotrophy
HP:0009053Distal lower limb muscle weakness
HP:0010307Stridor
HP:0012801Narrow jaw
HP:0030051Tip-toe gait
Очень редкий (1–4%)17
HP:0000308Microretrognathia
HP:0000369Low-set ears
HP:0000407Sensorineural hearing impairment
HP:0000565Esotropia
HP:0000639Nystagmus
HP:0000651Diplopia
HP:0000768Pectus carinatum
HP:0001265Hyporeflexia
HP:0001374Congenital hip dislocation
HP:0001561Polyhydramnios
HP:0002020Gastroesophageal reflux
HP:0002392EEG with polyspike wave complexes
HP:0002870Obstructive sleep apnea
HP:0005943Respiratory arrest
HP:0007178Motor polyneuropathy
HP:0025401Staring gaze
HP:0001382Joint hypermobility
Исключён (0%)1
HP:0030208Acetylcholine receptor antibody positivity
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Point prevalence | 1-9 / 1 000 000 | 0.3 | Europe | Value and class |
| Point prevalence | 1-9 / 1 000 000 | 0.92 | United Kingdom | Value and class |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)