Congenital muscular dystrophy without intellectual disability
ORPHA:370980DiseaseAutosomal recessiveInfancy, Neonatal
Ассоциированные гены4
| Ген | Полное название | Тип связи | Тип гена | OMIM |
|---|---|---|---|---|
| POMT1 | protein O-mannosyltransferase 1 | Disease-causing germline mutation(s) in | gene with protein product | 607423 |
| FKTN | fukutin | Disease-causing germline mutation(s) in | gene with protein product | 607440 |
| FKRP | fukutin related protein | Disease-causing germline mutation(s) in | gene with protein product | 606596 |
| CRPPA | CDP-L-ribitol pyrophosphorylase A | Disease-causing germline mutation(s) (loss of function) in | gene with protein product | 614631 |
Фенотипы (HPO)27
Очень частый (80–99%)1
HP:0003560Muscular dystrophy
Частый (30–79%)19
HP:0001270Motor delay
HP:0001272Cerebellar atrophy
HP:0001288Gait disturbance
HP:0001290Generalized hypotonia
HP:0001319Neonatal hypotonia
HP:0001349Facial diplegia
HP:0001771Achilles tendon contracture
HP:0002359Frequent falls
HP:0002500Abnormal cerebral white matter morphology
HP:0003324Generalized muscle weakness
HP:0003326Myalgia
HP:0003394Muscle spasm
HP:0003458EMG: myopathic abnormalities
HP:0003797Limb-girdle muscle atrophy
HP:0007126Proximal amyotrophy
HP:0008180Mildly elevated creatine kinase
HP:0012548Fatty replacement of skeletal muscle
HP:0030051Tip-toe gait
HP:0030099Reduced muscle fiber alpha dystroglycan
Периодический (5–29%)3
HP:0000252Microcephaly
HP:0002350Cerebellar cyst
HP:0002751Kyphoscoliosis
Очень редкий (1–4%)3
HP:0001302Pachygyria
HP:0002119Ventriculomegaly
HP:0002282Gray matter heterotopia
Исключён (0%)1
HP:0001249Intellectual disability
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only |
| Annual incidence | Unknown | — | Worldwide | Class only |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)