Table 7b.

AARS2-Related Neurodegeneration with or without Leukoencephalopathy: Treatment of Manifestations

Manifestation/ConcernTreatmentConsiderations/Other
Motor dysfunction
  • Levodopa or other dopaminergic therapies for parkinsonism
  • Botulinum toxin for spasticity
To date, there is no data on benefits of these treatments in persons w/AARS2-related disorder.
Orthopedics / physical medicine & rehab / PT & OT incl stretching to help avoid contractures & fallsConsider need for positioning & mobility devices, disability parking placard.
Cognitive decline /
Dementia
  • Cognitive behavioral therapy
  • Psychoeducational interventions
Hypogonadism (in females) Treatment per endocrinologist & gynecologist
Neuropsychiatric manifestations Psychotherapy / neuropsychological rehab
  • There are no data on long-term efficacy of psychiatric treatments for depression, suicidal tendencies, anxiety, & psychosis.
  • The use of antipsychotic drugs should be discussed w/individual &/or family due to potential risk of extrapyramidal symptoms. They may be considered in persons w/aggression.
Ocular manifestations Standard treatments per ophthalmologist &/or ophthalmic subspecialist for more complex findings (e.g., optic nerve atrophy, retinopathy)
Seizures Standardized treatment w/ASM by experienced neurologist
  • Many ASMs may be effective; none has been demonstrated effective specifically for this disorder.
  • Education of parents/caregivers 1
Family/Community Education re social issues & ↑ risk of depressionSocial issues (e.g., unemployment, divorce, financial challenges, & substance abuse) & suicidal tendencies may be assoc w/disease progression.

ASM = anti-seizure medication; OT = occupational therapy; PT = physical therapy

1.

Education of parents/caregivers regarding common seizure presentations is appropriate. For information on non-medical interventions and coping strategies for children diagnosed with epilepsy, see Epilepsy Foundation Toolbox.

From: AARS2-Related Disorder

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