Autosomal recessive spastic ataxia of Charlevoix-Saguenay
ORPHA:98DiseaseAutosomal recessiveAdolescent, Adult, Childhood, Infancy
Ассоциированные гены1
Фенотипы (HPO)38
Частый (30–79%)27
HP:0000020Urinary incontinence
HP:0001251Ataxia
HP:0001257Spasticity
HP:0001260Dysarthria
HP:0001272Cerebellar atrophy
HP:0001310Dysmetria
HP:0001317Abnormal cerebellum morphology
HP:0001320Cerebellar vermis hypoplasia
HP:0001324Muscle weakness
HP:0001634Mitral valve prolapse
HP:0002061Lower limb spasticity
HP:0002073Progressive cerebellar ataxia
HP:0002079Hypoplasia of the corpus callosum
HP:0002317Unsteady gait
HP:0003487Babinski sign
HP:0007108Demyelinating peripheral neuropathy
HP:0007141Sensorimotor neuropathy
HP:0007256Abnormal pyramidal sign
HP:0007361Abnormality of the pons
HP:0007922Hypermyelinated retinal nerve fibers
HP:0007979Gaze-evoked horizontal nystagmus
HP:0009830Peripheral neuropathy
HP:0011931Abnormality of the cerebellar peduncle
HP:0012104Parietal cortical atrophy
HP:0012896Abnormal motor evoked potentials
HP:0100702Arachnoid cyst
HP:0001288Gait disturbance
Периодический (5–29%)10
HP:0000708Atypical behavior
HP:0001760Abnormal foot morphology
HP:0002015Dysphagia
HP:0002066Gait ataxia
HP:0002080Intention tremor
HP:0002495Impaired vibratory sensation
HP:0003438Absent Achilles reflex
HP:0003693Distal amyotrophy
HP:0009027Foot dorsiflexor weakness
HP:0010830Impaired tactile sensation
Очень редкий (1–4%)1
HP:0000802Impotence
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only |
| Prevalence at birth | 6-9 / 10 000 | 51.76 | Specific population | Value and class |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)