Hereditary Sensory and Autonomic Neuropathy Type 1E
What is Hereditary Sensory and Autonomic Neuropathy Type 1E?
Hereditary sensory and autonomic neuropathy type 1E (HSAN 1E) is a condition which which affects the central and peripheral nervous systems. Onset of symptoms typically occurs between the ages of 20 and 35. As the condition progresses it is likely for affected individuals to experience dementia some time during their thirties.
What are the symptoms of Hereditary Sensory and Autonomic Neuropathy Type 1E?
HSAN 1E may include loss of sweating in the hands and feet, impaired or lost sensation in the legs and feet, hearing loss, and a decline in intellectual function leading to dementia. Some people living with HSAN 1E also experience seizures, and sleeping disorders. The severity and onset of symptoms may vary even across members of the same family with HSAN 1E.
What causes Hereditary Sensory and Autonomic Neuropathy Type 1E?
HSAN 1E is an inherited condition passed down by parents to their progeny. The condition is passed through an autosomal dominant pattern and is caused by a mutation in the DNMT1 gene. This means a person only needs to inherit one copy of the mutated gene to cause HSAN 1E.
How is Hereditary Sensory and Autonomic Neuropathy Type 1E Diagnosed?
Because HSAN 1E is a genetic condition it is often difficult to make an accurate diagnosis. Medical history plays a major role in establishing this kind of diagnosis. Symptoms, a physical exam, and a variety of lab tests may also be employed.
There are also a number of genetic tests which may be helpful in determining if HSAN 1E explains a person’s symptoms. More information on these types of tests can be found here.
What are the treatments for Hereditary Sensory and Autonomic Neuropathy Type 1E?
No effective treatment currently exists for HSAN 1E. Symptoms, however, may be managed to help people living with the condition achieve a greater quality of life. This includes paying careful attention to distal limbs and avoiding injury, the use of hearing aids and/or other devices assisting in communication, sedative or antipsychotic medications for symptoms associated with dementia, support from caregivers or community to assist in psychological needs.