What is ADLD or Adult Onset Autosomal Dominant Leukodystrophy?
ADLD is one of a group of genetic disorders called leukodystrophies. This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In most cases, an affected person has one parent with the condition.
What Are the Symptoms?
- The first signs often involve problems with the autonomic nervous system, which controls involuntary body processes such as the regulation of blood pressure and body temperature.
- Can also include:
- Difficulty with bowel and bladder function
- Sharp drop in blood pressure upon standing
- Erectile dysfunction
- Inability to sweat which can lead to a dangerously high body temperature (rare)
- The following symptoms usually develop after the autonomic nervous system problems.
- Muscle stiffness
- Weakness and involuntary rhythmic shaking
- Difficulty coordinating movements such as judging distance or scale, picking up a distant object, or rapidly alternating movements like hand clapping or foot stomping
- Difficulty walking
- Unsteady gait
- Can also include:
How Do You Get ADLD?
It is caused by mutations in the LMNB1 gene. Typically, this disorder results from an abnormal extra copy of the LMNB1 gene. This causes more lamin B1 to be produced than normal. Increases lamin B1 affects myelin production. The loss of myelin occurs in the brain and spinal cord which contributes to the early symptoms. Movement issues are most likely due to the loss of myelin in the cerebellum, the part of the brain that coordinates movement, and of the nerve cells that extend down the spinal cord which control voluntary muscle movement.
How Is ADLD Diagnosed?
It is diagnosed through an MRI and genetic testing.
Is There a Treatment?
Treatment is symptomatic and varies based on the signs and symptoms in each person. Depending on symptoms, individuals with this disorder should be monitored by medical professionals such as a nutritionist, pulmonologist, urologist, neurologist, physiatrist, orthopedist, physical therapist, and/or occupational therapist, etc.