Table 4.

Treatment of Manifestations in Individuals with LMNB1-related Autosomal Dominant Leukodystrophy (ADLD)

Manifestation/ConcernTreatmentConsiderations/Other
Neurogenic bladder
  • Address recurrent urinary tract infections w/attn to bladder regimens for managing neurogenic bladders, which may (rarely) require antibiotic prophylaxis.
  • Spasmolytics (e.g., solifenacine succinate) for urinary urgency
Constipation Good hydration & dietary fiberStool softeners (e.g., docusate) or a laxative may be needed.
Orthostatic hypotension
  • Pharmacologic treatment (mineralocorticoids such as fludrocortisone or vasopressors such as hydrochloride)
  • Compression stockings
  • PT (to help w/rising from supine positions)
  • ↑ salt in the diet
Erectile dysfunction Medical treatment w/sildenafil
Anhidrosis Avoid overheating.
  • Can use cooling vests, fans, air conditioning
  • Intensive mgmt of infections should incl adequate antipyretic treatment.
Spasticity
  • Medications to help ↓ muscle tone such as oral baclofen or diazepam (GABA agonists) or injectable botulinum toxin for focal muscle spasticity
  • Individualized PT regimen to improve joint mobility & function
Ataxia
  • Strategies to minimize falls & ↑ strength
  • Adaptive equipment such as walkers or wheelchairs
Feeding difficulties assoc w/pseudobulbar palsy Speech therapy & appropriate feeding interventions to assure adequate nutrition while preventing aspiration pneumonia
Cognitive dysfunction
  • Work w/social worker & financial planner to help anticipate issues of guardianship that may accompany progressive decline.
  • Family & patient support/advocacy groups to help address progressive psychosocial consequences of ADLD

PT = physical therapy

From: LMNB1-Related Autosomal Dominant Leukodystrophy

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