Friedreich ataxia
ORPHA:95DiseaseAutosomal recessiveAdolescent, Childhood
Ассоциированные гены1
Фенотипы (HPO)53
Облигатный (100%)1
HP:0002066Gait ataxia
Очень частый (80–99%)6
HP:0001260Dysarthria
HP:0002070Limb ataxia
HP:0002141Gait imbalance
HP:0003487Babinski sign
HP:0009130Hand muscle atrophy
HP:0010831Impaired proprioception
Частый (30–79%)28
HP:0002522Areflexia of lower limbs
HP:0002527Falls
HP:0002650Scoliosis
HP:0002839Urinary bladder sphincter dysfunction
HP:0003115Abnormal EKG
HP:0003390Sensory axonal neuropathy
HP:0003394Muscle spasm
HP:0007010Poor fine motor coordination
HP:0010873Cervical spinal cord atrophy
HP:0012079Abnormality of central motor conduction
HP:0012452Restless legs
HP:0030183Impaired visually enhanced vestibulo-ocular reflex
HP:0000012Urinary urgency
HP:0000570Abnormal saccadic eye movements
HP:0000639Nystagmus
HP:0000648Optic atrophy
HP:0001063Acrocyanosis
HP:0001310Dysmetria
HP:0001324Muscle weakness
HP:0001638Cardiomyopathy
HP:0001760Abnormal foot morphology
HP:0001761Pes cavus
HP:0001762Talipes equinovarus
HP:0002037Inflammation of the large intestine
HP:0002080Intention tremor
HP:0002270Abnormality of the autonomic nervous system
HP:0002312Clumsiness
HP:0002495Impaired vibratory sensation
Периодический (5–29%)17
HP:0000365Hearing impairment
HP:0000716Depression
HP:0000739Anxiety
HP:0000819Diabetes mellitus
HP:0001257Spasticity
HP:0001272Cerebellar atrophy
HP:0001332Dystonia
HP:0001618Dysphonia
HP:0002015Dysphagia
HP:0002075Dysdiadochokinesis
HP:0002540Inability to walk
HP:0002546Incomprehensible speech
HP:0003431Decreased motor nerve conduction velocity
HP:0004349Reduced bone mineral density
HP:0007663Reduced visual acuity
HP:0010535Sleep apnea
HP:0025402Square-wave jerks
Очень редкий (1–4%)1
HP:0002072Chorea
Эпидемиология17
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Point prevalence | 1-9 / 100 000 | 2 | Europe | Value and class |
| Point prevalence | 1-9 / 100 000 | 2.3 | France | Value and class |
| Prevalence at birth | 1-9 / 100 000 | 2.8 | Italy | Value and class |
| Point prevalence | 1-9 / 100 000 | 1.1 | Italy | Value and class |
| Prevalence at birth | 1-9 / 100 000 | 6.2 | Spain | Value and class |
| Point prevalence | 1-9 / 100 000 | 4.3 | Spain | Value and class |
| Prevalence at birth | 1-9 / 100 000 | 1 | Finland | Value and class |
| Point prevalence | 1-9 / 1 000 000 | 0.13 | Finland | Value and class |
| Point prevalence | 1-9 / 1 000 000 | 0.7 | Denmark | Value and class |
| Point prevalence | 1-9 / 1 000 000 | 0.9 | Portugal | Value and class |
| Point prevalence | 1-9 / 100 000 | 1.8 | United Kingdom | Value and class |
| Point prevalence | 1-9 / 1 000 000 | 0.9 | Greece | Value and class |
| Point prevalence | 1-9 / 100 000 | 1 | Norway | Value and class |
| Point prevalence | 1-9 / 100 000 | 2.1 | Germany | Value and class |
| Point prevalence | 1-9 / 1 000 000 | 0.24 | Sweden | Value and class |
| Point prevalence | 1-9 / 1 000 000 | 0.27 | Czech Republic | Value and class |
| Point prevalence | 1-9 / 100 000 | 3.03 | Russian Federation | Value and class |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)