Following is the UHDRS and, below that, the Juvenile HD

Westphal Variant-Juvenile HD

__________________________________________________________

To facilitate clinical research in Huntington's disease (HD), the Huntington Study Group (HSG), an international consortium for HD research, has developed a unified rating scale (UHDRS). This is a clinical means to pool data of all HD patients seen at different centers in the world.

The current UHDRS database numbers more than 4,000 individuals affected by or immediately at risk for HD. A cross-sectional and prospective analysis of the database of the UHDRS instrument was published in Movement Disorders (vol. 11:136-142,1996).

In a large cohort using the UHDRS natural history database, the rate of functional decline was evaluated over a maximum of 4 years of observation. A full report was published in Neurology (54:452-458, 2000).

Unified Huntington's Disease Rating Scale (UHDRS)

Motor Section

This is a rating system to quantify the severity of Huntington's Disease. It is divided into multiple subsections:motor, cognitive, behavioral, functional. These scores can be calculated by summing the various questions of each section. Some sections (such as chorea and dystonia) require grading each extremity, face, bucco-oral-ligual, and trunk separately. Eye movements require both horizontal and vertical grades.

Ocular Pursuit (horizontal)

0-complete

1-jerky

2-interrupted/full range

3-incomplete range

4-cannot pursue
Ocular Pursuit (vertical)

0-complete

1-jerky

2-interrupted/full range

3-incomplete range

4-cannot pursue
Saccade Initiation (horizontal)

0-normal

1-increased latency

2-suppressible blinks/head movements to initiate

3-unsuppressible head movements

4-cannot initiate
Saccade Initiation (vertical)

0-normal

1-increased latency

2-suppressible blinks/head movements to initiate

3-unsuppressible head movements

4-cannot initiate
Saccade Velocity (horizontal)

0-normal

1-mild slowing

2-moderate slowing

3-severely slow, full range

4-incomplete range
Saccade Velocity (vertical)

0-normal

1-mild slowing

2-moderate slowing

3-severely slow, full range

4-incomplete range
Dysarthria

0-normal

1-unclear, no need to repeat

2-must repeat

3-mostly incomprehensible

4-mute
Tongue Protrusion

0-normal

1-<10 seconds

2-<5 seconds

3-cannot fully protrude

4-cannot beyond lips
Finger Taps (right)

0-normal (15/5sec)

1-mild slowing or reduction in amp.

2-moderately impaired. may have occasional arrests (7- 10/15sec)

3-severely impaired. Frequent hesitations and arrests

4-can barely perform
Finger Taps (left)

0-normal (15/5sec)

1-mild slowing or reduction in amp.

2-moderately impaired. may have occasional arrests (7- 10/15sec)

3-severely impaired. Frequent hesitations and arrests

4-can barely perform
Pronate/Supinate (right)

0-normal

1-mild slowing/irregular

2-moderate slowing and irregular

3-severe slowing and irregular

4-cannot perform
Pronate/Supinate (left)

0-normal

1-mild slowing/irregular

2-moderate slowing and irregular

3-severe slowing and irregular

4-cannot perform
Fist-Hand-Palm Sequence

0->4 in 10 seconds without cues

1-<4 in 10 sec. without cues

2->4 in 10 sec. with cues

3-<4 in 10 sec. with cues

4-cannot perform
Rigidity-arms (right)

0-absent

1-slight or only with activation

2-mild/moderate

3-severe, full range of motion

4-severe with limited range
Rigidity-arms (left)

0-absent

1-slight or only with activation

2-mild/moderate

3-severe, full range of motion

4-severe with limited range
Bradykinesia

0-normal

1-minimally slow

2-mildly but clearly slow

3-moderately slow

4-marked slowing, long delays in initiation
Maximal Dystonia(trunk)

0-absent

1-slight/intermittent

2-mild/common or moderate/intermittent

3-moderate/common

4-marked/prolonged
Maximal Dystonia(RUE)

0-absent

1-slight/intermittent

2-mild/common or moderate/intermittent

3-moderate/common

4-marked/prolonged
Maximal Dystonia(LUE)

0-absent

1-slight/intermittent

2-mild/common or moderate/intermittent

3-moderate/common

4-marked/prolonged
Maximal Dystonia(RLE)

0-absent

1-slight/intermittent

2-mild/common or moderate/intermittent

3-moderate/common

4-marked/prolonged
Maximal Dystonia(LLE)

0-absent

1-slight/intermittent

2-mild/common or moderate/intermittent

3-moderate/common

4-marked/prolonged
Maximal Chorea (Face)

0-absent

1-slight/intermittent

2-mild/common or moderate/intermittent

3-moderate/common

4-marked/prolonged
Maximal Chorea (BOL)

0-absent

1-slight/intermittent

2-mild/common or moderate/intermittent

3-moderate/common

4-marked/prolonged
Maximal Chorea (Trunk)

0-absent

1-slight/intermittent

2-mild/common or moderate/intermittent

3-moderate/common

4-marked/prolonged
Maximal Chorea (RUE)

0-absent

1-slight/intermittent

2-mild/common or moderate/intermittent

3-moderate/common

4-marked/prolonged
Maximal Chorea (LUE)

0-absent

1-slight/intermittent

2-mild/common or moderate/intermittent

3-moderate/common

4-marked/prolonged
Maximal Chorea (LLE)

0-absent

1-slight/intermittent

2-mild/common or moderate/intermittent

3-moderate/common

4-marked/prolonged
Maximal Chorea (RLE)

0-absent

1-slight/intermittent

2-mild/common or moderate/intermittent

3-moderate/common

4-marked/prolonged
Gait

0-normal narrow base

1-wide base, and/or slow

2-wide base, walks with difficulty

3-walks with assistance

4-cannot attempt
Tandem Walking

0-normal for 10 steps

1-1-3 deviations

2->3 deviations

3-cannot complete

4-cannot attempt
Retropulsion

0-normal

1-recovers spontaneously

2-would fall if not caught

3-falls spontaneously

4-cannot stand

Back to AAN Home Page

This scale was updated in 1999:

UHDRS '99 - represents an update and expansion of the UHDRS to enhance the utility and applicability of this research tool. The revised UHDRS '99 and accompanying manual are the copywritten intellectual property of the HSG.

__________________________________________________________

Westphal Variant-Juvenile HD

Pediatric Database (PEDBASE)
Last Updated: 1/02/95

HUNTINGTON'S DISEASE (WESTPHAL VARIANT)

DEFINITION:

A progressive neurodegenerative disorder characterized initially by bradykinesia

and rigidity then choreiform movements.

EPIDEMIOLOGY:

incidence: 5-10/100,000 (prevalance)
age of onset:
- of patients with Huntingon's Disease
  - 10% have onset of symptoms prior to 20 years of age
  - 5% have onset of symptoms prior to 14 years of age
  - 1% have onset of symptoms prior to 10 years of age
risk factors:
- familial - autosomal dominant
  - father is affected in 83% of cases
- chrom.#: 4p16.3
- gene: Huntington Disease (HD) gene

PATHOGENESIS:

1. Background

Huntington's Disease belongs to an expanding family of disorders

where the genetic mutation involves unstable trinucleotide repeats

(C_G):

Disorder-Trinucleotide Repeat

Fragile X Syndrome - CGG

Myotonic Dystrophy - CTG

Huntington Disease - CAG

Kennedy's Disease - CAG

Spinocerebellar Ataxia-I - CAG

Machado-Joseph Disease - CAG

- in this family of disorders, the number of repeats tends to

increase with succeeding generations ("genetic anticipation")

- in Huntington's Disease:

o the HD gene was isolated by James Gusella's group in winter

of 1993 and an unstable part of the gene was identified in

the coding region characterized by numerous repeats of

single trinucleotide sequences containing the bases cytosine,

adenine, and guanine (CAG)

o in normal individuals, there are between 9-34 CAG repeats

but in those with HD, there may be between 30-100 CAG

repeats

- the function the the HD gene product is unknown

2. Genetic Defect

- genetic defect -> amplification of the sequence of unstable

trinucleotide repeats (CAG) to greater than 30 -> encodes a

long tract of glutamine residues -> altered protein -> pheno-

typic expression of the disease

- there is a strong inverse correlation between the length of the

CAG repeat and the age of onset of the disease

CLINICAL FEATURES:

1. Neurologic Manifestations

1. Initial

initially presents with bradykinesia and rigidity

may also initially present with behavioural or cognitive deterioration and

poor school performance

2. Late

chorea tends to involve proximal muscle groups
associated features
- 50% - generalized tonic-clonic seizures
- 50% - cerebellar signs
- 20% - oculomotor apraxia
- gait disturbances
more rapid course in children than in adults
- average of 8 years till death (14 years in adults)

INVESTIGATIONS:

1. Diagnostic

- identification of amplified CAG sequences in the HD gene of

affected individuals

2. Imaging Studies

1. CT/MRI

atrophy of the caudate nucleus and frontal cortex
dilatation of the lateral ventricles

MANAGEMENT:

1. Medical

movement disorders
- bradykinesia/rigidity - antiparkinsonian drugs
- chorea - dopamine antagonists
behavioural problems
- neuroleptics and/or antidepressants
seizure disorder
- very resistant to anticonvulsant therapy

2. Supportive

genetic counselling