LMNB1-related autosomal dominant leukodystrophy
OMIM number: 169500
Comments closing date: 11/09/2026
Autosomal dominant leukodystrophy (ADLD) is a rare genetic condition which leads to a gradual
degeneration of the central nervous system. This particularly affects the white matter of the brain
and spinal cord. Symptoms typically start in adulthood, most commonly 40's/50's and
symptoms progress slowly over many years. Symptoms of this condition can include: •
Difficulties with balance and walking (known as ataxia) • Muscle stiffness or spasticity, especially
in the legs • Symptoms such as bladder difficulties including incontinence and inability to empty the bladder, severe constipation, or problems regulating blood pressure, which can cause
dizziness on standing • Progressive weakness and unsteadiness As the condition advances, quality of life is significantly impacted. Affected individuals are likely to develop increasing mobility issues. In some cases, this may require the use of a wheelchair and support with daily living tasks such as washing and dressing. This condition can also cause weakness of the muscles used for speech,
resulting in slurred or unclear speech (known as dysarthria). Affected individuals may also have
difficulty swallowing. This causes a risk of choking which can lead to chest infections. Some
individual’s experience cognitive difficulties (problems with memory and thinking) and develop
dementia towards the latter stages of the disease. This may mean that affected individuals may
require a high level of care and may no longer be able to live independently.
