Huntington’s Disease (Brain Nerve Cells Breakdown): Stages & It’s Treatment

  • April 16, 2018
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Huntington disease (HD)is an inherited, neurodegenerative condition resulting in clinical symptoms of progressive movement disorders, cognitive deficits, and behavioral changes that may affect an individual’s ability to participate in activities of daily living, work, and community.

Usual onset-30 to 50 years old.

Duration – longterm

Causes – Genetic (inherited or new mutation)

Patients with early HD (stages 1 and 2) have increasing concerns about cognitive issues, and these concerns remain constant during moderate HD (stages 3 and 4th). Patients with late-stage HD (stage 5) have a lack of cognitive concerns, presumably due to impaired insight

Clinical Features:

The clinical features of HD include a movement disorder, a cognitive disorder, and a behavioral disorder. Patients may present with one or all disorders in varying degrees.

Chorea may be the initial symptom. This progresses from mere fidgetiness to gross involuntary movements which interrupt voluntary movement and make feeding and walking impossible. severe chorea may appear as uncontrollable flailing of the extremities(ie, ballism), which interferes with function.

Dementia

Behavioral disturbance- personality change, affective disorders, and psychosis occur

Hypotonicity often accompanies fidgety, choreiform movements

Primitive reflexes-grasp, pout, and palmomental are elicited. eye movements are disturbed with the persistence of gaze

Physical therapy may play a role in assisting people with HD to maintain their independence in activities of daily living by addressing both impairments and limitations in functional activities.

Despite the potential for physical therapy to assist people with HD, evidence suggests that people with HD are not always routinely referred for physical therapy, particularly in the early stages. 2-4 this lack of referral may be attributable to the limited scientific support for the effectiveness of physical therapy interventions in HD.

GOAL of physiotherapy Enhance fitness and wellness

Strengthen the muscles of limbs, core thereby increase power, strength, and endurance

Maintain respiratory capacity, vital capacity improve oxygenation using breathing exercises, thoracic expansion exercises

Stabilize gait and Improve balance by teaching balance retraining in sitting and standing

Gait training

Prescribe and fit  assistive devices

Educate and support caregivers

Client-specific home exercise programs

Deep brain stimulation

Diagnosis

On clinical grounds with a family history, one has to identify benign hereditary chorea in which intellect is preserved, whereas senile chorea will be seen in older age and the absence of dementia is a key feature.

CT  scan may demonstrate atrophy of the caudate nucleus

MRI shows an increase in the T2 signal in the caudate nucleus

Prediction Of Disease

The  Huntington mutation is a trinucleotide repeat on chromosome 4. Identifying the locus provides a reliable  method of detecting the disease

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