SYNLAB
Praxis für Humangenetik Jena

Spinozerebelläre Ataxie 6 (SCA6)

Ihr regionales Labor für Rückfragen und Beauftragung
Material Dauer Akkreditierung
3 - 5 ml EDTA-Blut 4 Wochen ja
Untersuchte Bereiche / Gene
Gen/Region OMIM-P Erbgang Erkrankung Methodik
CACNA1A 183086 None Spinozerebelläre Ataxie 6 (SCA6)
HPO Terms
Abdominal distention|Abnormal autonomic nervous system physiology|Abnormal brainstem morphology|Abnormal corpus callosum morphology|Abnormal head movements|Abnormal involuntary eye movements|Abnormal myelination|Abnormal pyramidal sign|Abnormal speech pattern|Abnormal T-wave|Abnormal vestibular function|Abnormal vestibulo-ocular reflex|Abnormality of coordination|Abnormality of the gastrointestinal tract|Abnormality of vision|Aggressive behavior|Agitation|Alien limb phenomenon|Amaurosis fugax|Anorexia|Anxiety|Apathy|Aphasia|Apnea|Areflexia|Arrhythmia|Aspiration|Ataxia|Athetosis|Atonic seizure|Attention deficit hyperactivity disorder|Atypical absence seizure|Atypical behavior|Auditory hallucination|Autism|Autistic behavior|Autosomal dominant inheritance|Babinski sign|Bilateral tonic-clonic seizure|Blepharospasm|Bradyopsia|Brain atrophy|Brain imaging abnormality|Bulbar signs|Cardiac conduction abnormality|Cardiomyopathy|Cerebellar atrophy|Cerebellar vermis atrophy|Cerebral atrophy|Cerebral cortical atrophy|Cerebral edema|Choking episodes|Chorea|Choreoathetosis|Coma|Complex febrile seizure|Confusion|Congenital onset|Constipation|Convulsive status epilepticus|CSF lymphocytic pleiocytosis|CSF pleocytosis|Decreased fetal movement|Decreased vigilance|Dehydration|Delayed speech and language development|Developmental regression|Diarrhea|Diplopia|Dissociated sensory loss|Distal upper limb muscle weakness|Downbeat nystagmus|Downslanted palpebral fissures|Downturned corners of mouth|Drowsiness|Dysarthria|Dyscalculia|Dyskinesia|Dysmetria|Dysphagia|Dystonia|EEG abnormality|EEG with focal sharp slow waves|EEG with focal sharp waves|EEG with generalized sharp slow waves|EEG with multifocal slow activity|Emotional lability|Encephalopathy|Epileptic encephalopathy|Episodic ataxia|Episodic hemiplegia|Esotropia|Exaggerated cupid's bow|Exotropia|Facial hypotonia|Facial paralysis|Facial tics|Failure to thrive|Falls|Feeding difficulties|Fever|First dorsal interossei muscle weakness|Flexion contracture|Flushing|Focal impaired awareness seizure|Focal manual automatism seizure|Focal motor seizure|Focal pedal automatism seizure|Focal sensory seizure|Focal tonic seizure|Focal-onset seizure|Frequent falls|Gait ataxia|Gait disturbance|Gastroesophageal reflux|Gastrointestinal dysmotility|Gaze-evoked horizontal nystagmus|Gaze-evoked nystagmus|Generalized hypotonia|Generalized myoclonic seizure|Generalized tonic seizure|Genetic anticipation|Global developmental delay|Headache|Hearing impairment|Hemiparesis|Hemiplegia|High forehead|Hyperactivity|Hyperhidrosis|Hyperreflexia|Hypertonia|Hypodontia|Hyporeflexia|Hypotonia|Hypsarrhythmia|Impaired smooth pursuit|Impaired temperature sensation|Impulsivity|Incoordination|Increased CSF protein concentration|Infantile onset|Insidious onset|Intellectual disability|Intention tremor|Involuntary movements|Irritability|Juvenile onset|Language impairment|Limb hypertonia|Loss of ambulation|Mental deterioration|Metamorphopsia|Microcephaly|Migraine|Migraine with aura|Migraine without aura|Muscle weakness|Mydriasis|Myoclonic seizure|Myoclonus|Myotonia|Nausea and vomiting|Neonatal onset|Neurodevelopmental delay|Nuchal rigidity|Nystagmus|Ocular flutter|Oculomotor apraxia|Optic atrophy|Oral-pharyngeal dysphagia|Pallor|Paresthesia|Paroxysmal dyskinesia|Personality disorder|Photopsia|Poor head control|Postural instability|Progressive|Progressive cerebellar ataxia|Progressive gait ataxia|Progressive neurologic deterioration|Psychosis|Ptosis|Reduced tendon reflexes|Respiratory distress|Retinal degeneration|Rigidity|Saccadic smooth pursuit|Scotoma|Seesaw nystagmus|Seizure|Sensory neuropathy|Short stature|Skewfoot|Slurred speech|Spasticity|Spontaneous pain sensation|Status epilepticus|Strabismus|Tetraparesis|Thin eyebrow|Tinnitus|Tongue fasciculations|Tonic seizure|Torticollis|Transient unilateral blurring of vision|Tremor|Truncal ataxia|Typified by incomplete penetrance|Unsteady gait|Vertical nystagmus|Vertigo|Visual hallucination|Vomiting|Young adult onset
Kosten
Die Kosten werden bei bestehender medizinischer Indikation über einen Überweisungsschein Typ 10 (EBM) abgerechnet. Humangenetische Leistungen sind nicht budgetrelevant. Für privatversicherte Patienten sowie private Kostenträger (Krankenhäuser etc.) können auf Wunsch entsprechende Kostenvoranschläge erstellt werden.
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