Other Dominant Conditions that Include Ataxia as a Symptom
Haw River Syndrome-DRPLA
Haw River Syndrome, also called dentatorubral pallidoluysian atrophy (DRPLA), is characterized by progressive ataxia, involuntary movements, and dementia. Some patients have epilepsy. Patients may have seizures and abnormal movements or jerks (myoclonus) that may require specific drug treatment. Psychiatric symptoms may also require specific treatment. Age of onset varies from young childhood to age 62. DRPLA is an autosomal dominant condition that is caused by a repeat expansion. If both repeat numbers are less than 35, then the individual will not develop DRPLA. If one repeat number is 48 or larger, the individual will develop DRPLA. OPA1
OPA stands for Optic Atrophy. Optic nerve is the nerve of that eyes that allows vision. Patients with optic atrophy have shrunken optic nerves which interferes with vision. Some patients with OPA1 also have ataxia. Patients with OPA1 can also have hearing loss, paralysis of the muscles that move the eyes, and muscle weakness. OPA1 is caused by sequence changes in the OPA1 gene. Testing for mutations in the OPA1 gene is available. POLG1 ataxias
This is a group of ataxias caused by sequence changes in the POLG1 gene. The POLG1 gene is very important because it is responsible for copying the DNA in our mitochondria. Mitochondria are found inside the cell and are the energy factories in our bodies. Mitochondria have their own genetic instructions. When we need to make new mitochondria, these genetic instructions have to be copied. If the POLG1 gene is not functioning correctly, the genetic instructions in the mitochondria are copied incorrectly. This leads to malfunctioning mitochondria, which can cause several types of ataxia. Some of these ataxias are autosomal recessive and some are autosomal dominant. Some of these ataxias are pure (no other symptoms), while others are complicated (with many other neurological symptoms in addition to ataxia). Additional symptoms may include infertility, paralysis of the eye muscles, seizures, problems with the liver, and other findings. Testing for mutations in the POLG1 gene is available. - Recessive forms-
MIRAS- Mitochondrial Recessive Ataxia Syndrome ANS-Ataxia Neuropathy Spectrum SANDO-Sensory Ataxic Neuropathy Dysarthria and Ophthalmoparesis SCAE-SpinoCerebellar Ataxia with Epilepsy There are several more beyond this listing
- Dominant forms-
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