Juvenile amyotrophic lateral sclerosis
ORPHA:300605DiseaseAutosomal recessiveChildhood
Ассоциированные гены5
| Ген | Полное название | Тип связи | Тип гена | OMIM |
|---|---|---|---|---|
| ALS2 | alsin Rho guanine nucleotide exchange factor ALS2 | Disease-causing germline mutation(s) in | gene with protein product | 606352 |
| SPG11 | SPG11 vesicle trafficking associated, spatacsin | Disease-causing germline mutation(s) in | gene with protein product | 610844 |
| SIGMAR1 | sigma non-opioid intracellular receptor 1 | Disease-causing germline mutation(s) in | gene with protein product | 601978 |
| FUS | FUS RNA binding protein | Disease-causing germline mutation(s) in | gene with protein product | 137070 |
| SPTLC1 | serine palmitoyltransferase long chain base subunit 1 | Disease-causing germline mutation(s) in | gene with protein product | 605712 |
Фенотипы (HPO)46
Очень частый (80–99%)6
HP:0001324Muscle weakness
HP:0002061Lower limb spasticity
HP:0003202Skeletal muscle atrophy
HP:0003693Distal amyotrophy
HP:0006986Upper limb spasticity
HP:0007354Amyotrophic lateral sclerosis
Частый (30–79%)15
HP:0001264Spastic diplegia
HP:0001276Hypertonia
HP:0001288Gait disturbance
HP:0001332Dystonia
HP:0001348Brisk reflexes
HP:0002167Abnormality of speech or vocalization
HP:0002460Distal muscle weakness
HP:0002483Bulbar signs
HP:0002540Inability to walk
HP:0003429CNS hypomyelination
HP:0005750Contractures of the joints of the lower limbs
HP:0031936Delayed ability to walk
HP:0031960Arm dystonia
HP:0100295Muscle fiber atrophy
HP:0100360Contractures of the joints of the upper limbs
Периодический (5–29%)25
HP:0000020Urinary incontinence
HP:0000252Microcephaly
HP:0000605Supranuclear gaze palsy
HP:0000639Nystagmus
HP:0000708Atypical behavior
HP:0001251Ataxia
HP:0001263Global developmental delay
HP:0001300Parkinsonism
HP:0001317Abnormal cerebellum morphology
HP:0002015Dysphagia
HP:0002072Chorea
HP:0002169Clonus
HP:0002179Opisthotonus
HP:0002425Anarthria
HP:0002530Axial dystonia
HP:0002544Retrocollis
HP:0002599Head titubation
HP:0002650Scoliosis
HP:0003701Proximal muscle weakness
HP:0003722Neck flexor weakness
HP:0004326Cachexia
HP:0011471Gastrostomy tube feeding in infancy
HP:0012048Oromandibular dystonia
HP:0030051Tip-toe gait
HP:0100543Cognitive impairment
Эпидемиология1
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Point prevalence | <1 / 1 000 000 | — | Europe | Class only |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)