DYT-PRKRA
Alternate names[edit | edit source]
DYT16; Young-onset dystonia-(parkinsonism); Dystonia-16
Definition[edit | edit source]
Dystonia 16 is one of many forms of dystonia, which is a group of conditions characterized by involuntary movements, twisting (torsion) and tensing of various muscles, and unusual positioning of affected body parts.
Epidemiology[edit | edit source]
It has been described in 8 patients from three Brazilian families and one German family to date.
Cause[edit | edit source]
- Dystonia 16 is caused by mutations in the PRKRA gene, which provides instructions for making a protein called PACT.
- The PACT protein helps control a cell's response to stress, such as exposure to viruses, damaging molecules called free radicals, or other toxic substances.
- When a cell is under stress, the PACT protein turns on signals that reduce protein production, which helps protect cells from damage.
- These signals can ultimately lead to self-destruction (apoptosis) of the cell if it remains under stress.
Gene mutations[edit | edit source]
- PRKRA gene mutations result in production of abnormal PACT proteins.
- The pattern of signals stimulated by these abnormal proteins in response to stress is altered, which increases the rate at which cell death occurs.
- Researchers suspect that the excessive loss of cells in certain regions of the brain impairs the brain's ability to control muscles and movement, resulting in the features of dystonia 16.
- It is unclear why brain cells are particularly affected by PRKRA gene mutations.
Inheritance[edit | edit source]
DYT16 is inherited in an autosomal recessive manner, and genetic counseling is possible and recommended.
Signs and symptoms[edit | edit source]
- The signs and symptoms of dystonia 16 vary among people with the condition.
- In many affected individuals, the disorder first affects muscles in one or both arms or legs.
- Tensing (contraction) of the muscles often sets the affected limb in an abnormal position, which may be painful and can lead to difficulty performing tasks, such as walking.
- In others, muscles in the neck are affected first, causing the head to be pulled backward and positioned with the chin in the air (retrocollis).
- In dystonia 16, muscles of the jaw, lips, and tongue are also commonly affected (oromandibular dystonia), causing difficulty opening and closing the mouth and problems with swallowing and speech.
- Speech can also be affected by involuntary tensing of the muscles that control the vocal cords (laryngeal dystonia), resulting in a quiet, breathy voice or an inability to speak clearly.
- Dystonia 16 gradually gets worse, eventually involving muscles in most parts of the body.
- Some people with dystonia 16 develop a pattern of movement abnormalities known as parkinsonism.
- These abnormalities include unusually slow movement (bradykinesia), muscle rigidity, tremors, and an inability to hold the body upright and balanced (postural instability).
- In dystonia 16, parkinsonism is relatively mild if it develops at all.
- The signs and symptoms of dystonia 16 usually do not get better when treated with drugs that are typically used for movement disorders.
Clinical presentation[edit | edit source]
For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed.
80%-99% of people have these symptoms
- Limb dystonia
30%-79% of people have these symptoms
- Abnormal pyramidal sign
- Bradykinesia(Slow movements)
- Dysarthria(Difficulty articulating speech)
- Dysphagia(Poor swallowing)
- Dysphonia(Inability to produce voice sounds)
- Hyperreflexia(Increased reflexes)
- Lower limb pain(Leg pain)
- Orofacial dyskinesia
- Parkinsonism
- Postural tremor
- Torticollis(Wry neck)
- Unsteady gait(Unsteady walk)
5%-29% of people have these symptoms
- Cognitive impairment(Abnormality of cognition)
- Motor delay
1%-4% of people have these symptoms
- Intellectual disability(Mental deficiency)
Diagnosis[edit | edit source]
Treatment[edit | edit source]
NIH genetic and rare disease info[edit source]
DYT-PRKRA is a rare disease.
DYT-PRKRA Resources | ||
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