Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures

MONDO:0100095

An autosomal recessive neurodegenerative disorder with onset in the first years of life following normal early development, with cyclic episodic deterioration in response to stress, such as infection or febrile illness. The severity is highly variable. The cause is mutations in the ADPRHL2 gene.

Also known as: CONDSIAS, childhood-onset stress-induced neurodegenerative ataxia-seizure syndrome, neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures

14 clinical trials for this condition and its sub-types.

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Broader categories

Disease (618) Nervous system disorder (217) Hereditary disease (172) Neurodegenerative disease (155) Central nervous system disorder (97) Human disease (14) Inherited neurodegenerative disorder (10) Hereditary neurological disease (5) Autosomal recessive disease (4) Disease of genetic or genomic mechanism (2)

Trials to join now! 5 Not yet recruiting 1 Not yet finished but already full! 2 Completed 6

Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures

Broader categories

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