ATP1A1

Management

Treatment and management of all the ATP1A1-related manifestations is supportive according to the specific symptoms and signs. Specific disease-specific guidelines should be followed, if any.


Surveillance for developmental delay and/or autism spectrum disorder (including gross and fine motor function, neuropsychological evaluation) with early intervention programs (psychomotricity, physical therapy, speech therapy) are recommended.
Epilepsy and status epilepticus should be managed by mean of appropriate antiepileptic drugs according to the patient’s characteristics and type of seizures, as cited in epilepsy guidelines. In HOMGSMR2, seizures seem to persist despite amelioration of magnesium levels.
Spasticity can be managed by mean of physical therapy, specific orthoses, or by mean of appropriate anti-spastic drugs (e.g., skeletal muscle relaxants such as baclofen or dantrolene sodium; benzodiazepines such as diazepam; alpha2-adrenergic agonists such as clonidine or tizanidine; botulin toxins).
Manifestations related to peripheral neuropathy may require physical therapy, specific orthoses, surgical treatments for complications (e.g. limb contractures); sensory symptoms may require specific drugs for neuropathic pain.