IllnessAtaxien, hereditäre

Diagnostics in four stages

1. depending on the suspected diagnosis: FXN- or RFC1- or SCA-associated repeats (if clinical information supports a suspicion and not previously done, otherwise stage 2)
2. NGS diagnostics for the core genes and the missing repeat analyses.
3. NGS diagnostics for additional genes.

This panel was created with the aim of covering all known monogenic hereditary disorders associated with gait or limb ataxia as a first or leading symptom, such as M. Friedreich, ataxia teleangiectasia, spinocerebellar ataxias, ataxias with oculomotor apraxia, episodic ataxias, hereditary spastic paraplegia with ataxia as a prominent symptom (SPG7), RFC1-associated diseases (e.g. CANVAS), fragile X syndrome. The most common diseases (according to gene reviews) are included as core genes. In the course of these diseases, other cerebellar signs such as oculomotor disturbances and dysarthria, but also signs of involvement of the first or second motor neuron, extrapyramidal movement disorders, organ involvement, tumor disposition or epileptic seizures may occur. The special technical processing of the frequent repeat expansions in this group of diseases is taken into account when requesting this panel. Diseases that are generally associated with a significant combined developmental delay or epileptic seizures are not included here (e.g. pontocerebellar hypoplasia, Lafora disease or Joubert syndrome). In the case of primary combined developmental delay, epileptic encephalopathies or cerebral developmental disorders (e.g. pronounced cerebellar hypoplasia), a different panel or exome diagnostics according to HPO-Terms should be requested. Due to the pronounced heterogeneity of the diseases that can be associated with ataxia, an inconspicuous result does not rule out a clinical diagnosis.

• Ataxia teleangiectasia
• Ataxie mit okulomotoischer Apraxie
• Friedreich
• ataxia
• episodic ataxia
• episodische Ataxie
• spinocerebellar ataxia
• spinocerebelläre Ataxie
• spinozerebelläre Ataxie