Choreoacanthocytosis
ORPHA:2388DiseaseAutosomal recessiveAdult
Ассоциированные гены1
Фенотипы (HPO)86
Очень частый (80–99%)2
HP:0002072Chorea
HP:0004305Involuntary movements
Частый (30–79%)25
HP:0000708Atypical behavior
HP:0001250Seizure
HP:0001300Parkinsonism
HP:0001315Reduced tendon reflexes
HP:0001927Acanthocytosis
HP:0002275Poor motor coordination
HP:0002340Caudate atrophy
HP:0002451Limb dystonia
HP:0002460Distal muscle weakness
HP:0002495Impaired vibratory sensation
HP:0002527Falls
HP:0003198Myopathy
HP:0003236Elevated circulating creatine kinase concentration
HP:0003438Absent Achilles reflex
HP:0003445EMG: neuropathic changes
HP:0003477Peripheral axonal neuropathy
HP:0003693Distal amyotrophy
HP:0006956Dilation of lateral ventricles
HP:0007078Decreased amplitude of sensory action potentials
HP:0012049Laryngeal dystonia
HP:0025402Square-wave jerks
HP:0030272Abnormal erythrocyte enzyme activity
HP:0100034Motor tics
HP:0100035Phonic tics
HP:0100295Muscle fiber atrophy
Периодический (5–29%)52
HP:0000496Abnormality of eye movement
HP:0000514Slow saccadic eye movements
HP:0000643Blepharospasm
HP:0000712Emotional lability
HP:0000716Depression
HP:0000718Aggressive behavior
HP:0000722Compulsive behaviors
HP:0000736Short attention span
HP:0000737Irritability
HP:0000739Anxiety
HP:0000741Apathy
HP:0000752Hyperactivity
HP:0001260Dysarthria
HP:0001268Mental deterioration
HP:0001276Hypertonia
HP:0001350Slurred speech
HP:0001369Arthritis
HP:0001744Splenomegaly
HP:0001824Weight loss
HP:0002015Dysphagia
HP:0002067Bradykinesia
HP:0002069Bilateral tonic-clonic seizure
HP:0002120Cerebral cortical atrophy
HP:0002240Hepatomegaly
HP:0002322Resting tremor
HP:0002487Hyperkinetic movements
HP:0002505Loss of ambulation
HP:0002599Head titubation
HP:0003380Decreased number of peripheral myelinated nerve fibers
HP:0003763Bruxism
HP:0004302Functional motor deficit
HP:0006913Frontal cortical atrophy
HP:0008110Equinovarus deformity
HP:0008767Self-mutilation of tongue and lips due to involuntary movements
HP:0009049Peroneal muscle atrophy
HP:0010808Protruding tongue
HP:0011999Paranoia
HP:0012048Oromandibular dystonia
HP:0012167Hair-pulling
HP:0012168Head-banging
HP:0012479Temporomandibular joint crepitus
HP:0012697Small basal ganglia
HP:0025100Abnormal hippocampus morphology
HP:0025331Upgaze palsy
HP:0025479Self-neglect
HP:0025517Hypoplastic hippocampus
HP:0030220Socially inappropriate behavior
HP:0031008Lingual dystonia
HP:0031843Bradyphrenia
HP:0031908Micrographia
HP:0031982Abnormal putamen morphology
HP:0100716Self-injurious behavior
Очень редкий (1–4%)7
HP:0001644Dilated cardiomyopathy
HP:0002360Sleep abnormality
HP:0012332Abnormal autonomic nervous system physiology
HP:0012675Iron accumulation in brain
HP:0025435Increased circulating lactate dehydrogenase concentration
HP:0031956Elevated circulating aspartate aminotransferase concentration
HP:0031964Elevated circulating alanine aminotransferase concentration
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)