Anderman Syndrome
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Andermann syndrome, also known as Hereditary Motor and Sensory Neuropathy with Agenesis of the Corpus Callosum is a rare autosomal recessive genetic disorder that damages the nerves used for muscle movement and sensation and involves a malformation of the brain A progressive sensory-motor polyneuropathy where nerves are poorly developed and often half their normal size causing severe muscle wasting and loss of sensation characterized by the absence of the corpus callosum mild-to-severe intellectual disability is typically present along with developmental delays weak muscle tone, tremors, absent reflexes, and scoliosis. Affected individuals typically begin walking by age 3-4 but lose this ability by their teenage years. The disease is progressive and the prognosis is poor with many affected individuals not surviving past age 40 due to severe worsening neurological issues.
There is no cure management is supportive often involving physiotherapy wheelchairs sometimes surgery for scoliosis.
skool.com/anderman-syndrome-6749
Andermann syndrome, also known as Hereditary Motor and Sensory Neuropathy with Agenesis of the Corpus Callosum.
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