Spinozerebelläre Ataxie 2 (SCA2)

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
ATXN2 183090 AD Spinozerebelläre Ataxie 2 (SCA2) Fragmentanalyse mittels Kapillarelektrophorese (Repeat-PCR), Short-Read-NGS
HPO Terms
Abnormal autonomic nervous system physiology|Abnormal cell morphology|Abnormal cortical gyration|Abnormal substantia nigra morphology|Abnormality of the spinocerebellar tracts|Abnormality on pulmonary function testing|Action tremor|Adult onset|Amyotrophic lateral sclerosis|Anxiety|Ataxia|Atypical behavior|Autosomal dominant inheritance|Babinski sign|Bradykinesia|Cachexia|Cerebellar atrophy|Cerebellar Purkinje layer atrophy|Cerebral cortical atrophy|Cerebral white matter atrophy|Chorea|Cognitive impairment|Constipation|Dementia|Depression|Dilated fourth ventricle|Distal amyotrophy|Drooling|Dysarthria|Dysdiadochokinesis|Dysmetria|Dysmetric saccades|Dysphagia|Dysphonia|Dyspnea|Dystonia|Emotional lability|Fasciculations|Fatigable weakness of bulbar muscles|Fatigable weakness of respiratory muscles|Fatigable weakness of swallowing muscles|Fatigue|Foot dorsiflexor weakness|Frontotemporal dementia|Gait ataxia|Gaze-evoked nystagmus|Generalized hypotonia|Generalized muscle weakness|Genetic anticipation|Hallucinations|Hoffmann sign|Hyperactive deep tendon reflexes|Hyperreflexia|Hyporeflexia|Hypotonia|Impaired horizontal smooth pursuit|Impaired vibratory sensation|Insidious onset|Jaw hyperreflexia|Kinetic tremor|Language impairment|Laryngospasm|Late onset|Lewy bodies|Limb ataxia|Lower limb muscle weakness|Mask-like facies|Micrographia|Motor neuron atrophy|Muscle spasm|Myoclonus|Neurodegeneration|Neuronal loss in central nervous system|Nystagmus|Oculomotor apraxia|Olivopontocerebellar atrophy|Olivopontocerebellar hypoplasia|Ophthalmoparesis|Ophthalmoplegia|Orthopnea|Pain|Paralysis|Parkinsonism|Personality changes|Postural instability|Postural tremor|Progressive|Progressive cerebellar ataxia|Progressive distal muscular atrophy|Respiratory failure|Resting tremor|Rigidity|Rod-cone dystrophy|Short stepped shuffling gait|Skeletal muscle atrophy|Sleep abnormality|Slow saccadic eye movements|Spastic paraparesis|Spasticity|Spinal cord posterior columns myelin loss|Spinocerebellar tract degeneration|Sporadic|Steppage gait|Substantia nigra gliosis|Supranuclear ophthalmoplegia|Tongue atrophy|Tongue fasciculations|Tremor|Unsteady gait|Upper limb muscle weakness|Urinary bladder sphincter dysfunction|Urinary incontinence|Urinary urgency|Weak voice|Weight loss|Xerostomia|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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