Spinal muscular atrophy-progressive myoclonic epilepsy syndrome
ORPHA:2590DiseaseAutosomal recessiveChildhood
Ассоциированные гены1
Фенотипы (HPO)33
Облигатный (100%)1
HP:0001250Seizure
Очень частый (80–99%)5
HP:0001336Myoclonus
HP:0002366Abnormal lower motor neuron morphology
HP:0004302Functional motor deficit
HP:0007340Lower limb muscle weakness
HP:0012379Abnormal enzyme/coenzyme activity
Частый (30–79%)10
HP:0000708Atypical behavior
HP:0001337Tremor
HP:0002100Recurrent aspiration pneumonia
HP:0002123Generalized myoclonic seizure
HP:0002312Clumsiness
HP:0002359Frequent falls
HP:0002747Respiratory insufficiency due to muscle weakness
HP:0010819Atonic seizure
HP:0011147Typical absence seizure
HP:0001288Gait disturbance
Периодический (5–29%)11
HP:0000407Sensorineural hearing impairment
HP:0001268Mental deterioration
HP:0001757High-frequency sensorineural hearing impairment
HP:0002515Waddling gait
HP:0002540Inability to walk
HP:0002650Scoliosis
HP:0002878Respiratory failure
HP:0025097Eyelid myoclonus
HP:0025190Bilateral tonic-clonic seizure with generalized onset
HP:0032667Myoclonic status epilepticus
HP:0045084Limb myoclonus
Очень редкий (1–4%)2
HP:0001249Intellectual disability
HP:0002015Dysphagia
Исключён (0%)4
HP:0001371Flexion contracture
HP:0001433Hepatosplenomegaly
HP:0001609Hoarse voice
HP:0200036Skin nodule
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 10 | 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)