Thursday, Jul 31, 2014 | 05:29 AM

Madisons Foundation - Moms And Dads In Search Of Needed Support

Juvenile Parkinson's Disease
Sunday, 08 August 2004
Thursday, 09 December 2004
Autosomal Recessive Juvenile Parkinsonism

What

Juvenile Parkinson’s Disease is a neurological disorder that manifests as rigidity or stiffness, resting tremors, and slow movements during initiation. It is a neurodegenerative disorder, in which a specific population of neurons in the brain is progressively destroyed.

Who

Juvenile Parkinson’s Disease affects children under the age of 20 years. The prevalence of this disease is unknown, and it affects all populations equally.

Signs and Symptoms

Those who develop Juvenile Parkinson’s Disease show similar symptoms, regardless of the cause.

  • Rigidity (increased resistance to someone else moving a joint)
  • Bradykinesia (slow movements during initiation)
  • Resting tremor (rhythmic movements when at rest and disappears during activity); sometimes manifested as “pill-rolling” movement of the hand
  • Micrographia (written letters are small)
  • Parkinson’s gait (small, shuffling steps that speed up as the person gets moving)
  • Postural instability (inability to maintain upright posture)
  • Hypophonia (decreased volume of voice)
  • Decreased facial expression

Possible Causes

Juvenile Parkinson’s Disease is usually defined as a genetic disease that is passed through the family in an autosomal recessive manner. Both parents must have one copy of the mutated gene (PARK2) in order for their child to develop the disease. Only 25% of the children will have both mutated copies of PARK2 and develop the disease, 50% will have one copy of the mutated gene, and 25% will have two normal copies of the gene and will not have the disease. Those who have one normal copy and one mutated copy are called heterozygotes, and it has been shown that a few of these individuals will develop Juvenile Parkinson’s Disease, but it not known why this happens. Additionally, many cases of Juvenile Parkinson’s Disease are idiopathic, which indicates that there may be other causes of this neurological

Diagnosis

The diagnosis of Juvenile Parkinson’s Disease is made based on clinical symptoms and family history. The three cardinal symptoms are tremors, rigidity, and bradykinesia, and the presence of only two of these is needed to make a diagnosis. These symptoms frequently affect only one side of the body. Those affected must be under the age of 20 years. Additionally, when levodopa is given to the patients, the symptoms will improve. The family history must be consistent with autosomal recessive inheritance patterns. There are currently no laboratory or imaging tests used to confirm the diagnosis of Juvenile Parkinson’s Disease. Only a brain tissue sample can be used to make a definitive diagnosis, though this is not always necessary. In Juvenile Parkinson’s Disease, there are microscopic findings in brain tissue that indicate Parkinson’s Disease, that can clearly distinguish it from the adult form of the disease. There are a few laboratories that will conduct genetic testing for prenatal diagnosis, but this is available only to those with an affected family member. Please refer to http://www.geneclinics.org/profiles/jpd/ for further information.

Treatment

There are a few medical therapies given to treat Juvenile Parkinson’s Disease. One treatment aims to protect existing neurons that are vulnerable to the effects of Parkinson’s. Another method is to treat the symptoms. For example, if one has greater problems with tremors, a physician may prescribe an anticholinergic medication to help suppress them. The most effective treatments, however, are dopaminergic agents, which help to increase the amounts of dopamine in the brain. Juvenile Parkinson’s Disease destroys cells that produce dopamine, so by increasing dopamine levels, there is some relief from bradykinesia and rigidity. The problems with anti-parkinsonian drug therapy are motor and psychological side effects; some may experience confusion, memory problems, or depression.

Prognosis

Juvenile Parkinson’s Disease is a slowly progressive disorder—patients will have increasing difficulties in controlling the symptoms, even with drug therapy. The course of the disease is variable among the patient population, but many live several decades past the initial diagnosis.

Connect with other parents

In the spirit of community and support, Madisons Foundation offers the unique service of connecting parents of children with rare diseases. If you would like to be connected to other parents of children with this disease, please fill out this brief form.

Weblinks

National Parkinson Foundation
Provides information and support for Parkinson!/s Disease.

Parkinson!/s Disease Foundation
Provides information and support for Parkinson!/s Disease.

We Move:
Provides information, support, discussion forums, and a list of organizations geared towards helping families and patients with movement disorders. This site has specific information for pediatric patients.

Google Search for Juvenile Parkinson's Disease

References and Sources

Brice A, Durr A, and Lucking C (2003). Parkin Type of Juvenile Parkinson Disease. www.geneclinics.org/profiles/jpd/ Koutouzis TK and Stone D (2004). Parkinson Disease. www.emedicinehealth.com Yamamura Y, Hattori N, Matsumine H, Kuzuhara S, Mizuno Y (2000). Autosomal recessive early-onset parkinsonism with diurnal fluctuation: clinicopathologic characteristics and molecular genetic identification. Brain & Development. 22, p. S87-S91.