What is dystonia, its causes and symptoms?

From the Guidelines

Dystonia is a movement disorder characterized by involuntary muscle contractions that cause abnormal postures or repetitive movements, and its causes include genetic mutations, brain injury, certain medications, and other neurological conditions. The most recent and highest quality study on dystonia is from 1, which provides an overview of movement disorders and neurodegenerative diseases, including dystonia. According to this study, dystonia can be primary (genetic or idiopathic) or secondary (resulting from brain injury, certain medications, or other neurological conditions). Common causes of dystonia include genetic mutations (particularly in the DYT1 gene), brain trauma, stroke, oxygen deprivation at birth, infections affecting the brain, and side effects from medications like antipsychotics. Symptoms of dystonia vary widely but typically include:

• Involuntary muscle contractions
• Twisted or abnormal postures
• Tremor
• Pain in affected areas
• Worsening symptoms during voluntary movements or stress Dystonia may affect specific body parts (focal dystonia) such as:
• The neck (cervical dystonia)
• Eyes (blepharospasm)
• Hand (writer's cramp)
• Or can be generalized across multiple body regions Treatment options for dystonia include:
• Oral medications (anticholinergics like trihexyphenidyl, muscle relaxants like baclofen, and benzodiazepines)
• Botulinum toxin injections directly into affected muscles
• In severe cases, deep brain stimulation surgery Physical therapy and stress management techniques can help manage symptoms alongside medical treatments, as noted in 1 and 1. It's essential to note that the diagnosis and treatment of dystonia should be guided by the most recent and highest quality evidence, and the treatment approach should prioritize minimizing morbidity, mortality, and improving quality of life.

From the Research

Definition and Causes of Dystonia

• Dystonia is a neurological syndrome characterized by involuntary, patterned, sustained, or repetitive muscle contractions of opposing muscles, causing twisting movements and abnormal postures 2.
• It can be the manifesting neurological sign of many disorders, either in isolation (isolated dystonia) or with additional signs (combined dystonia) 3.
• The causes of dystonia can be primary (without a specific cause) or secondary (due to gene mutations, other medical conditions, or environmental factors) 2, 3.
• Some common genetic causes of dystonia include mutations in the TOR1A, THAP1, GCH1, and KMT2B genes 3.

Symptoms of Dystonia

• Dystonia can affect all age groups and lead to substantial disability and impaired quality of life 3.
• The symptoms of dystonia can vary depending on the type and severity of the condition, but may include:
  • Involuntary muscular contractions that generate twisting and repetitive movements and/or abnormal postures 4.
  • Focal dystonia (affecting a few muscle groups) or generalized dystonia (affecting most muscles in the body) 4.
  • Abnormal postures, tremors, or other movement disorders 5.
• Dystonia can be difficult to diagnose due to its variability in presentation, uncertain recognition of specific clinical signs, and wide etiological spectrum 5.

Types of Dystonia

• Isolated dystonia (without additional neurological signs) 3.
• Combined dystonia (with additional neurological signs) 3.
• Primary dystonia (without a specific cause) 2.
• Secondary dystonia (due to gene mutations, other medical conditions, or environmental factors) 2, 3.
• Focal dystonia (affecting a few muscle groups) 4.
• Generalized dystonia (affecting most muscles in the body) 4.