Juvenile Huntington’s Disease
While Huntington’s Disease (HD) primarily affects adults, in approximately 10 percent of the cases, onset of symptoms occurs before age 20. Juvenile-onset HD presents unique challenges to families and caregivers. Understanding the stages of juvenile HD will help caregivers and doctors support and guide the children through the progression of the disease.
Diagnosis
Many physicians are slow to suspect or diagnose juvenile-onset HD. The US HD Genetic Testing Group found that several factors were characteristic of juvenile HD:
- An affected father
- Drooling or changes in speech or swallowing
- Seizures
- Severe behavior problems
- Rigidity (stiffness)
- Chorea (very uncommon in young children, but may be present in teenagers)
While a child with Juvenile HD may not exhibit every symptom, the more symptoms shown, the more likely that the child has the condition, A gene test will confirm that the HD gene is present, but it cannot predict the time of symptom onset nor can it prove the symptoms are caused by HD.
Treatment And Services
Children with HD usually need a range of services, which no single provider can offer. HDSA Centers of Excellence for Family Services are comprehensive medical centers that bring together multidisciplinary teams of professionals who are skilled in assisting families facing HD. These may include: pediatric neurologists; movement disorder specialists; physical, speech, and occupational therapists; psychologists or psychiatrists; dentists and pediatricians. Although nothing can slow or stop the disease, some medications and therapies may alleviate some symptoms. As symptoms increase, caregivers must become familiar with local services for handicapped children-both at home and in school.
Support
Though Juvenile HD is rare, support is available through telephone and e-mail networks, where caregivers can share resources and experiences. HDSA is an excellent source for references and referrals to healthcare professionals, educational specialists and Centers of Excellence.
Research And Advocacy
Because of the rarity of Juvenile HD and fears about toxicity of drugs, only a few clinical trials, such as the CARE-HD trial, have targeted Juvenile HD. Research has not ignored Juvenile HD, though. It appears that the new transgenic mouse models may actually be more representative of juvenile than adult HD, due to the very large CAG repeats. This may lead to breakthroughs in care or a cure. But until a cure is found, caregivers and their health and social care providers must be at the child’s advocate at school, at home and at the clinic.
About The Author
Martha Nance, M.D., is the Director of the HDSA Center of Excellence for Family Services at the Hennepin County Medical Center. She is an HDSA Scientific Editorial Board Member and recognized expert on Juvenile HD.