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HD-Martha Nance, M.D
Juvenile Huntington's Disease -------------------------------------------------- Diagnosis Treatment And Services Support Research And Advocacy About The Author 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:
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.
NOTE: Find the following at http://clix.to/HDSupportInfo
(a) HD Center of Excellence
(b) HDSA Chapter near you
(c) HD Support peer-lead group
(d) Find an on-line HD support group
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.
NOTE: To find out more about the HD Study Group and on-going clinical trials,
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.
NOTE:
Dr. M.A. Nance, Department of Neurosciences, Park Nicollet Clinic, 6490 Excelsior Blvd., Suite E 500, St. Louis Park, MN 55426 612-993-3200/3360
~~~~~~~~~ The Physician's Guide to The Management of HD
under Overview & Principles of Treatment sections:
HD with onset in childhood has somewhat different features. Chorea is a much
less prominent feature, and may be absent altogether. Initial symptoms usually
include
Juvenile-onset HD tends to follow a more rapid course, with survival
less than 15 years. The vast majority of patients with juvenile onset
have inherited their HD gene from an affected father. The reason for
this tendency is now understood in genetic terms and will be
explained in detail in Genetic Counseling & Testing For HD (CHAPTER 2)
~~~~~~~~~~~~~
Juvenile HD
Some affected individuals develop symptoms before age 20. Initial signs of HD have been reported before puberty, or, in rare cases,
in children as young as four years of age or younger.
In those with juvenile HD, progressive loss of cognitive skills occurs along with increasing muscle stiffness and resistance to movement
(rigidity) and relative slowness of movement (bradykinesia). This
form of the disease is sometimes referred to as "akinetic-rigid" or
"Westphal variant" HD. Although it most commonly occurs in juvenile
cases, the rigid form of the disease has also been reported in some
adults.
Typical findings associated with juvenile HD include a sudden decline in academic performance, changes in handwriting, behavioral problems,
and seizures (epileptic convulsions). In addition, rather than the
chorea typically seen in adult-onset disease, the movement abnormalities
of juvenile HD tend to resemble those observed in Parkinson's disease.
Individuals with juvenile HD may experience muscle rigidity and
bradykinesia as well as tremors; brief, "shock-like" spasms of certain
muscles or muscle groups (myoclonus); progressively impaired control
of voluntary movement (ataxia); and dystonia. Juvenile HD typically
has a relatively rapid disease progression as compared with that observed
in adult-onset disease. |
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