Table 3.

Recommended Evaluations Following Initial Diagnosis in Individuals with LMNB1-related Autosomal Dominant Leukodystrophy (ADLD)

System/ConcernEvaluationComment
Neurologic NeurologistFor evidence of autonomic dysfunction (e.g., orthostatic hypotension), abnormal tone, &/or tremor
Urogenital
dysfunction 		Urologic evalFor urinary dysfunction, recurrent urinary tract infection, & erectile dysfunction
Bowel dysfunction Gastroenterology assessment
Upper motor
neuron dysfunction 		Assessment by rehab specialistsTo incl equipment needs
Cognitive function Neuropsychological assessment
Jaw tremor &
pseudobulbar palsy 		Eval of chewing, speech, & swallowing
Hearing loss Audiologic assessment
Genetic counseling By genetics professionals 1To inform patients & their families re nature, MOI, & implications of ADLD in order to facilitate medical & personal decision making
Family support
& resources 		Assess need for:
  • Social work involvement for family support;
  • Home nursing referral.
1.

Medical geneticist, certified genetic counselor, certified advanced genetic nurse

From: LMNB1-Related Autosomal Dominant Leukodystrophy

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