Roussy-Lévy syndrome
ORPHA:3115DiseaseAutosomal dominantChildhood, Infancy
Ассоциированные гены2
Фенотипы (HPO)27
Частый (30–79%)21
HP:0001288Gait disturbance
HP:0000639Nystagmus
HP:0001284Areflexia
HP:0001761Pes cavus
HP:0001762Talipes equinovarus
HP:0002066Gait ataxia
HP:0002070Limb ataxia
HP:0002174Postural tremor
HP:0002312Clumsiness
HP:0002317Unsteady gait
HP:0002495Impaired vibratory sensation
HP:0002650Scoliosis
HP:0002751Kyphoscoliosis
HP:0003431Decreased motor nerve conduction velocity
HP:0003474Somatic sensory dysfunction
HP:0003693Distal amyotrophy
HP:0007131Acute demyelinating polyneuropathy
HP:0007141Sensorimotor neuropathy
HP:0007328Impaired pain sensation
HP:0007340Lower limb muscle weakness
HP:0010829Impaired temperature sensition
Периодический (5–29%)6
HP:0002359Frequent falls
HP:0002839Urinary bladder sphincter dysfunction
HP:0002857Genu valgum
HP:0003202Skeletal muscle atrophy
HP:0003487Babinski sign
HP:0008954Intrinsic hand muscle atrophy
Эпидемиология1
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)