Dantrolene Effective for Muscle Problems in AADC Deficiency Children: Case Study

By Jodee Redmond from In The Cloud Copy

The results of a case study have found that dantrolene can be used to treat involuntary muscle contractions (dystonia) in children with AADC deficiency.

What is AADC Deficiency?

AADC (aromatic l-amino acid decarboxylase) deficiency is a neurometabolic disease. It is hereditary and the symptoms usually become apparent in the first weeks of life. AADC affects an infant’s nervous system; the disorder impedes the cells’ ability to communicate effectively with the body.

Neurotransmitters are the chemical transmitters used by the nervous system to send messages between neurons or from neurons to muscles. The body’s metabolism relies on neurotransmitters in order to function correctly.

AADC deficiency is caused by a mutation of the DDC gene. It is responsible for producing the AADC enzyme, which is a key part of making dopamine and serotonin, both of which are important brain neurotransmitters.

Symptoms of AADC Deficiency

Each person living with AADC deficiency may experience different symptoms, and their severity will also vary from patient to patient.

  • Abnormal weight gain
  • Fainting
  • Low blood pressure
  • Muscle stiffness
  • Uncontrollable movement of the hands and legs
  • Vision difficulties (droopy eyes and constricted pupils)
  • Weak muscle tone

These symptoms can result in loss of energy, along with difficulties with sleeping and eating.

Treatment for AADC Deficiency

Once this disease is diagnosed from a blood test (and possibly, a spinal tap), treatment focuses on symptom management. Some medications may be given that have a similar function to dopamine and serotonin, which will prevent the neurotransmitters from breaking down in the brain. Other medications are prescribed to treat specific symptoms.

Dantrolene Prescribed for Muscle Stiffness in AADC Deficiency Patients

Dystonia, or uncontrolled muscle contractions, are signs of AADC deficiency. Some patients develop a dystonic storm, where all their muscles contract involuntarily.

This condition, which may be caused by an infection or a medication adjustment, can develop into serious complications for the patient, such as respiratory failure. Another complication of a dystonic storm is muscle damage and destruction (rhabdomyolysis).

Researchers from BC Children’s Hospital recently described two cases of girls diagnosed with the illness. The patients, aged 16 months and 4.5 years, had been admitted to hospital with involuntary eye movements and dystonic storms that had turned into rhabdomyolysis.

One of the patients was already in kidney failure due to the extent of her muscle cell destruction and her life was at risk. Both of them were given medications to prevent their dopamine and serotonin levels from breaking down. They were also given dantrolene to treat the muscle cell destruction and damage.

Dantrolene doesn’t affect dopamine’s signaling pathway, which is the underlying cause of several issues related to AADC deficiency. It is a muscle relaxer that is used to treat stiffness and spasms due to several medical conditions. This medication is not usually recommended for children under the age of five unless managed by a doctor.

The results from the case study were published in the journal Neuropediatrics.

Check out the original story here.


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