Lamin related leukodystrophy; Autosomal dominant late-onset leukoencephalopathy
Age range at onset:
Specialists you may see:
Specialists in autonomic medicine; local neurologists; neuro-urology
ADLD is a rare slowly progressive neurological disorder; it may be years from the first signs of ADLD before some of these symptoms develop.
It may initially resemble multiple sclerosis, with autonomic dysfunction usually an early symptom (some may experience this later). Autonomic dysfunction results in urinary urgency, bladder retention, constipation and postural hypotension. Some will notice decreased sweating and men may experience erectile dysfunction. Other symptoms include spasticity, weakness of lower and upper extremities and hyperreflexia, alongside related movement symptoms such as gait ataxia, nystagmus, dysmetria, action tremors and loss of fine motor control. ADLD may lead to mild cognitive impairment and some personality changes, as well as an eventual loss of ability to walk and a slightly shortened lifespan.
Those with ADLD have an extra copy of the LMNB1 gene. This gene produces Lamin B1, meaning those with ADLD produce more Lamin B1. This creates a coating around cells which is thicker than normal, preventing some of them from duplicating. This particularly happens with myelin (white matter) in the brain, reducing the amount of myelin in a process called demyelination. Demyelination is typical of a leukodystrophy, showing in MRI scans and causing the symptoms described as it reaches the central nervous system and spinal cord.