Andermann syndrome

What is known about the psychiatric symptoms associated with Andermann syndrome?

Individuals with Andermann syndrome may develop psychiatric symptoms such as depression, anxiety, agitation, paranoia, and hallucinations, which usually appear in adolescence. One study reported that after age 15 years, 39% of the individuals with Andermann syndrome in their study developed "psychotic episodes" characterized by paranoid delusions, depressive states, visual hallucinations, auditory hallucinations, or "autistic-like" features. In another study, the authors agreed that psychosis appears at the end of adolescence. They also stated that a significant difference was observed between males and females for age of onset of psychosis, with females developing psychosis at a younger age. Upon reviewing the available literature, although there appears to be evidence of "psychotic episodes", no information was found regarding whether the psychiatric symptoms are generally transient or if the symptoms typically continue during the life span of the affected individuals.

Last updated on 05-01-20

What is Andermann syndrome?

Andermann syndrome (AS) is a disorder that damages the nerves used for muscle movement and sensation (motor and sensory neuropathy). Agenesis or malformation of the corpus callosum also occurs in most people with this disorder. Signs and symptoms of the disorder include areflexia; hypotonia; amyotrophy; severe progressive weakness and loss of sensation in the limbs; and tremors. Affected individuals typically begin walking late and lose this ability by their teenage years. Other features may include intellectual disability, seizures, contractures, scoliosis, various psychiatric symptoms, various atypical physical features, and cranial nerve problems that cause facial muscle weakness, ptosis, and difficulty following movements with the eyes (gaze palsy). It is caused by mutations in the SLC12A6 gene and is inherited in an autosomal recessive manner. AS is associated with a shortened life expectancy, but affected individuals typically live into adulthood.

Last updated on 05-01-20

Name: American Association on Intellectual and Developmental Disabilities 501 3rd Street NW Suite 200
Washington, DC, 20001, United States
Phone: (202) 387-1968 Toll Free: (800) 424-3688 Fax : (202) 387-2193 Url:
Name: National Organization of Disorders of the Corpus Callosum PMB 363 18032-C Lemon Drive
Yorba Linda, CA, 92886, United States
Phone: +1-714-747-0063 Fax : +1-714-693-0808 Email: Url:
Name: Mental Health America 2000 N. Beauregard Street, 6th Floor
Alexandria, VA, 22311, United States
Phone: 703-684-7722 Toll Free: 800-969-6642 Fax : 703-684-5968 Url:
Name: The Society for Developmental and Behavioral Pediatrics 6728 Old McLean Village Drive
McLean, VA, 22101, United States
Phone: 703-556-9222 Email: Url:

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The RareGuru disease database is regularly updated using data generously provided by GARD, the United States Genetic and Rare Disease Information Center.

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