​Dystonia Musculorum

Dystonia musculorum (also known as early onset generalized dystonia or torsion dystonia) is a disease that causes distortion of the limbs, specifically the foot and leg or hand and arm. It is a rare, generalized disease that can be inherited.

Dystonia musculorum is characterized by painful muscle contractions resulting in uncontrollable distortions. This disease is frequently found in children, with symptoms starting around the ages of eleven or twelve, which then become progressively worse. At its peak, this disease can leave you seriously disabled and confined to a wheelchair.

The symptoms commonly begin with contractions in one general area such as an arm or a leg, which continue to progress throughout the rest of your body. It takes around five years for the symptoms to completely progress to a state where you become incapacitated.

Dystonia musculorum is caused by a genetic disorder which results in a defect in a protein called “Torsin A” present in your body. A defect in this protein creates a disturbance in communication between neurons (or brain cells) that control muscle movement and muscle control. This defect is usually inherited from a parent, but can also occur on its own. It is a chronic, and sometimes painful, disorder but it is not fatal or dangerous.

Characteristics of dystonia musculorum include:

  • Twisted postures in the torso or limbs

  • Turning in of the limbs

  • Muscle spasms (sometimes painful)

  • Unusual gait when walking, including bending and twisting of the torso

  • Rapid and/or rhythmic jerking movements

  • Areas of the body remaining in fixed position

If symptoms appear at an early age and in the lower limbs, they are more likely to spread to the rest of the body. Symptoms commonly begin with just one specific action and are not present when you are in a state of rest. For example, if symptoms begin in one leg, they may only be present when you are walking and disappear when you are rest or running.

If you notice symptoms such as distortion of limbs and/or involuntary movements in yourself or a loved one, it is recommended that you consult with your doctor immediately. You can obtain additional information and expert medical advice from the Mind and Brain Service Line​ at The Aga Khan University Hospital the only internationally accredited hospital of Pakistan.

Your time with your doctor may be limited, so make sure to prepare for your visit beforehand. Here​ are some tips to help get you started.

The diagnosis of dystonia musculorum is not made by any one definitive test. Your doctor will gather relevant information from you and then conduct a thorough physical and neurological examination.

Your doctor will also ask you to undertake blood, urine and other laboratory tests in order to eliminate other underlying causes of the symptoms.

In some cases, a genetic test may also be conducted to confirm the diagnosis.

There are no medications to prevent dystonia or slow down the progression of the disease but there are several treatment options to ease some of the related symptoms including levodopa (sinemet) and muscle relaxants like tizanidien, baclofen, gabapentin and diazepam.

Early diagnosis and start of treatment for dystonia may improve your quality of life and alleviate some degree of disability. The first step is physical therapy to allow you to gain more control over the muscles in your affected areas. Overall, the goals of therapy should be directed at increasing movement, alleviating pain, preventing contractures, restoring functional abilities, and minimizing adverse effects from medical therapy.

Medication may also be beneficial, and according to research, a large number of patients improve with oral medication. However, there may be adverse side effects in some cases.

Another treatment option is injecting botulinum toxin (commonly known as Botox) into the affected area. It is injected directly into the muscle and works much in same way as oral medications do. The injections are not a treatment for the disease, but are a means to control its symptoms.

Another (rarely used) option is surgery. This is used only if you do not respond to any other type of treatment.

Once you start your treatment, the internationally trained doctors at the Mind and Brain Service Line​ at The Aga Khan University Hospital will treat you with utmost commitment and provide guidance along the way.

The Aga Khan University Hospital offers various support services to help with managing or recovering from the disease or condition. These include but are not limited to nutrition, physiotherapy, rehabilitation, specialized clinics and some patient support groups. Your doctor or nurse will advise you accordingly.
The Aga Khan University Hospital offers financial assistance to those who are in need and fulfil the eligibility criteria. For further information, you can contact the Patient Welfare Department. You can find the contact number of the Patient Welfare Department in the ‘Important Numbers’ section on the website homepage.
The financial counselling staff is available during office hours, at the main PBSD (Patient Business Services Department), to answer your financial queries on treatments’ costs and authorize admissions on partial deposit as per hospital policies allow. The financial counsellor in the emergency room is open 24/7. You can find the contact number of the Patient Business Services in the ‘Important Numbers’ section on the website homepage.

Your doctor and or nurse will give you specific instructions about the prescribed medication. Please ensure that you take or use the prescribed medicine as advised. It can be dangerous to your health if you self-prescribe. Please inform the doctor or nurse beforehand if you have experienced any adverse reactions to any medications in the past. If you experience any symptoms of drug poisoning, overdose or severe reaction please contact the Pharmacy Service at The Aga Khan University Hospital immediately. You can find the contact number of the Pharmacy Services in the ‘Important Numbers’ section on the website homepage.

The information provided on our website is for educational purposes and not intended to be a substitute for medical advice, diagnosis or treatment. You should always seek the advice of your doctor or other healthcare professional provider.