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Genetics Home Reference: PRICKLE1-related progressive myoclonus epilepsy with ataxia

Posted Dec 16 2011 3:30pm
Reviewed December 2011

What is PRICKLE1-related progressive myoclonus epilepsy with ataxia?

PRICKLE1-related progressive myoclonus epilepsy with ataxia is a rare inherited condition characterized by recurrent seizures (epilepsy) and problems with movement. The signs and symptoms of this disorder usually begin between the ages of 5 and 10.

Problems with balance and coordination (ataxia) are usually the first symptoms of PRICKLE1-related progressive myoclonus epilepsy with ataxia. Affected children often have trouble walking. Their gait is unbalanced and wide-based, and they may fall frequently. Later, children with this condition develop episodes of involuntary muscle jerking or twitching (myoclonus), which cause additional problems with movement. Myoclonus can also affect muscles in the face, leading to difficulty swallowing and slurred speech (dysarthria).

Beginning later in childhood, some affected individuals develop tonic-clonic or grand mal seizures. These seizures involve a loss of consciousness, muscle rigidity, and convulsions. They often occur at night (nocturnally) while the person is sleeping.

PRICKLE1-related progressive myoclonus epilepsy with ataxia does not seem to affect intellectual ability. Although a few affected individuals have died in childhood, many have lived into adulthood.

How common is PRICKLE1-related progressive myoclonus epilepsy with ataxia?

The prevalence of PRICKLE1-related progressive myoclonus epilepsy with ataxia is unknown. The condition has been reported in three large families from Jordan and northern Israel and in at least two unrelated individuals.

What genes are related to PRICKLE1-related progressive myoclonus epilepsy with ataxia?

PRICKLE1-related progressive myoclonus epilepsy with ataxia is caused by mutations in the PRICKLE1 gene. This gene provides instructions for making a protein called prickle-like 1, whose function is unknown. Studies suggest that it interacts with other proteins that are critical for brain development and function.

Mutations in the PRICKLE1 gene alter the structure of prickle-like 1 and disrupt its ability to interact with other proteins. However, it is unclear how these changes lead to movement problems, seizures, and the other features of PRICKLE1-related progressive myoclonus epilepsy with ataxia.

Read more about the PRICKLE1 gene.

How do people inherit PRICKLE1-related progressive myoclonus epilepsy with ataxia?

Some cases of PRICKLE1-related progressive myoclonus epilepsy with ataxia are inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.

Other cases of PRICKLE1-related progressive myoclonus epilepsy with ataxia are considered autosomal dominant because one copy of the altered gene in each cell is sufficient to cause the disorder. These cases result from new mutations in the gene and occur in people with no history of the disorder in their family.

Where can I find information about diagnosis, management, or treatment of PRICKLE1-related progressive myoclonus epilepsy with ataxia?

These resources address the diagnosis or management of PRICKLE1-related progressive myoclonus epilepsy with ataxia and may include treatment providers.

You might also find information on the diagnosis or management of PRICKLE1-related progressive myoclonus epilepsy with ataxia in Educational resources and Patient support .

To locate a healthcare provider, see How can I find a genetics professional in my area? in the Handbook.

Where can I find additional information about PRICKLE1-related progressive myoclonus epilepsy with ataxia?

You may find the following resources about PRICKLE1-related progressive myoclonus epilepsy with ataxia helpful. These materials are written for the general public.

You may also be interested in these resources, which are designed for healthcare professionals and researchers.

What other names do people use for PRICKLE1-related progressive myoclonus epilepsy with ataxia?

  • EPM1B
  • PME with ataxia
  • PRICKLE1-related progressive myoclonic epilepsy with ataxia
  • progressive myoclonic epilepsy 1B
  • progressive myoclonic epilepsy 1B
  • progressive myoclonus epilepsy with ataxia

For more information about naming genetic conditions, see the Genetics Home Reference Condition Naming Guidelines and How are genetic conditions and genes named? in the Handbook.

What if I still have specific questions about PRICKLE1-related progressive myoclonus epilepsy with ataxia?

Where can I find general information about genetic conditions?

What glossary definitions help with understanding PRICKLE1-related progressive myoclonus epilepsy with ataxia?

ataxia  ; autosomal  ; autosomal dominant  ; autosomal recessive  ; cell  ; difficulty swallowing  ; dysarthria  ; gait  ; gene  ; involuntary  ; mutation  ; myoclonus  ; myoclonus epilepsy  ; new mutation  ; prevalence  ; protein  ; recessive  ; seizure  ; sign  ; symptom

You may find definitions for these and many other terms in the Genetics Home Reference Glossary .

See also Understanding Medical Terminology .

References (5 links)

 

The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? in the Handbook.

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