"Ivano-Frankivsk National Medical University"

Department of Neurology
Head of Department - Professor Gryb Victoria
Anatoliyivna
 
Teacher of group- Professor Gryb Victoria
Anatoliyivna
Curator: the student Satyajit Mohanty and Gulshama
of the 4th course 59E+ group Neurology faculty

 
I. Passport part

• Patient’s surname, name, patronymic- Yusuf Khan

• Age – 53yrs

• Home address-Bhopal

• Place of work-Bhopal

• Who sent the patient-Polyclinic

• Clinical diagnosis: Huntington disease

• Complications- Abnormal Movements- falling and dropping things,grind things,limitations of eye

movements,difficulty in sustaining the movements ,affecting speech,swallow affected,dripping on
the ground.
 Abnormal Movements-falling and dropping things,grind things,limitations of eye
II. PATIENT COMPLAINTS
movements,difficulty in sustaining the movements ,affecting speech,swallow
affected,dripping on the ground.

III. Disease anamnesis

Involuntary movements, currently taking 100 mg of

cognitive decline, emotional
disturbances, speech and
swallowing difficulties, and
behavioral changes.
Sertraline (Zoloft), an
antidepressant, orally once
a day as prescribed by his
family doctor.
family has had unexplained
increased risk for
movement disorders or
depression, anxiety
dementia.
 Used to ride his bicycle with his co-workers on Saturday afternoons
for 45 minutes at a moderate intensity and go for leisurely walks with
his wife and daughter every night for about 30 minutes.

Viral hepatitis-No

Tuberculosis-No
IV. Life anamnesis

Venereal diseases-No

Malaria -No

Bad habits= Past history of Alcohol abuse and smoke

cigarettes 3-4 times a day

Allergic anamnesis -No 

•  

• V. OBJECTIVE EXAMINATION

• The general condition -Sleep impaired,appetite

loss,consciousness not clear not lost,depression,
chorea and abnormal body postures, as well as
problems with behavior, emotion, thinking, and
personality 

• Skin:

• Mucous membranes: hyperkeratosis, epidermal

atrophy, subepidermal fibrosis, and an increase in
acid mucopolysaccharide.

• Muscular system:  rigidity or muscle contracture

(dystonia) Slow or unusual eye movements 

• Bone System:

• Bone mineral density and T-scores were seen lower. 

• Lymphatic System: Lymph nodes are not palpable. 

• Respiratory system:

• - Tachypnea was seen. 

• The cardiovascular system :

• Tachycardia was seen with normal BP.

• The digestive system:

• -  gastritis and unintended weight-loss.

• The system of kidneys and the urinary

tract

• Normal

• Endocrine system: elevations in GH and

IGF-1 and decreases in thyroid-
stimulating hormone, free
triiodothyronine and testosterone .
• VI. Neurological status

•  General cerebral symptoms

• Consciousness - Unawareness of motor, cognitive,

behavioral, and functional aspect

• Focal symptoms

• Cranial nerves

• gradual degeneration caudate nucleus and putamen. 

• V (n.trigeminus) -It is affected that provides feeling

and signaling to many parts of head and face.

• VII (n. facialis) is also affected because he is not able

to open his eyes.

•  Area of the excitatory burst neurons for horizontal

saccades

• Raphe interpositus nucleus

• superior olive

• Lateral and medial vestibular Nucleus is affected

Motor system

Involuntary jerking or writhing movements (chorea) ,Muscle problems,such as

rigidity or muscle contracture (dystonia), Slow or unusual eye movement.

Coordination system
• Babinski sign) are present incidentally
• Stewart - Holmes symptom present
• dysmetria tests positive

Sensation system
• rapid uncontrollable muscle movements
• Types of sensation disturbances:
• neural – specify the nerve___VII and V is affected
• presence of pain
• chorea

Higher mental functions
• Aphasia:
• sensory (Wernicke) - affected
• decline in thinking and
reasoning skills, including
memory, concentration,
judgment, and ability to plan
and organize
The autonomic system
• Dermographism – normal
• Bernard - Horner symptom
(sympathetic denervation of
the eye) – present
TOTAL PATHOLOGY (specify the
syndromes)
• Huntington Syndrome-
Involuntary jerking or writhing
movements (chorea)
• Muscle problems, such as
rigidity or muscle contracture
(dystonia)
• Slow or unusual eye
movements.
• Impaired gait, posture and
balance.
• Difficulty with speech or
swallowing.
•  

• VII. Topical diagnosis and the picture of the

nervous system lesion
• MRI (magnetic resonance imaging) of brain
revealed caudate atrophy with ballooning of
frontal horn of lateral ventricles.
• Chest X-ray and 2-D Echo was normal.

• Ultrasonography for abdomen was normal 

• MR spectroscopy –elevation of lactate in the

occipital cortex and basal
• decrease in NAA/creatine ratio in keeping with
neuronal loss in the basal ganglia
• PET-hypometabolism by decreased FDG uptake in
basal ganglia and frontal cortex even noticeable
caudate nucleus volume loss.
• VIII. Additional examination methods data

•  

• IX. Differential diagnosis

• McLeod syndrome- is a multisystem disorder
with central nervous system (CNS),
neuromuscular, cardiovascular, and hematologic
manifestations in males.

•  
• Chorea-acanthocytosis- primarily a neurological
disorder that affects movement in many parts of
the body. 
• Primary familial brain calcification- condition
characterized by abnormal deposits of calcium
(calcification) in blood vessels within the brain.
• X. Clinical diagnosis

•  

• MRI (magnetic resonance imaging) of brain revealed caudate atrophy with ballooning of frontal horn of lateral ventricles.

•  

• Chest X-ray and 2-D Echo was normal.

•  

• Ultrasonography for abdomen was normal, Thyroid Profile (T3, T4, and TSH) was normal and other blood tests including CBC, RBS,
RFT and LFT were found to be normal.

•  

• Diagnosis of HD was confirmed by PCR (CAG) trinucleotide molecular analysis which showed 21 CAG repeats in one allele and 46
allele of Huntington gene.

•  

• Considering the family & patient history, clinical examination, MRI findings and CAG report, diagnosis of Huntington chorea was
made.
XI. Treatment of the disease
• Drugs to control movement include tetrabenazine (Xenazine) and
deutetrabenazine (Austedo)
• Antipsychotic drugs, such as haloperidol and fluphenazine, have a side effect of
suppressing movements
• Suppress chorea include amantadine (Gocovri, Osmolex ER), levetiracetam
(Keppra, Elepsia XR, Spritam) and clonazepam (Klonopin).
• Other drugs
• Tab. Risperidone (upto 8mg),
• Tab. Sertraline (upto 200 mg),
• Tab clonazepam (upto 4mg),
• Tab. Tetrabenazine-(50 mg) in divided doses.
Prescribed treatment

• Patient was managed with Tab. Risperidone twice a day after meal.

• Tab. Sertraline twice a day after meal.

• Tab clonazepam twice a day after meal.

• Tab. Tetrabenazine twice a day after meal.

• XIII. Prognosis

 The prognosis for Huntington's disease varies depending on the individual and the stage of the disease.
On average, individuals with Huntington's disease usually survive for 15 to 20 years after the onset of
symptoms. However, some people may live for a shorter or longer period of time.

•  

 There is currently no cure for Huntington's disease, and treatment is focused on managing symptoms.
Medications can be prescribed to help control movement and psychiatric symptoms, and physical
therapy and occupational therapy can help with mobility and activities of daily living.

•  

 It is important to note that the progression of the disease can vary significantly among individuals, even
among family members who share the same genetic mutation. Genetic testing and counseling can
provide more information about the risk of developing Huntington's disease and the potential impact
on an individual's health and family planning.
• XIV. Epicrisis

 Patient’s name, age-Salman Khan,53 yrs

 Diagnosis in the refferal – Huntington with chorea

 Complaints and basic clinical data on admission date- gastritis and unintended weightloss, falling and dropping things,grind things,limitations of eye
movements,difficulty in sustaining the movements ,affecting speech,swallow affected,dripping on the ground.

 Clinical diagnosis-

 MRI (magnetic resonance imaging) of brain revealed caudate atrophy with ballooning of frontal horn of lateral ventricles.

 Chest X-ray and 2-D Echo was normal. 

 Ultrasonography for abdomen was normal, Thyroid Profile (T3, T4, and TSH) was normal and other blood tests including CBC, RBS, RFT and LFT were found to be
normal.

 Diagnosis of HD was confirmed by PCR (CAG) trinucleotide molecular analysis which showed 21 CAG repeats in one allele and 46 allele of Huntington gene.

 Treatment-

 Patient was managed with Tab. Risperidone (upto 8mg),

 Tab. Sertraline (upto 200 mg),

 Tab clonazepam (upto 4mg),

 Tab. Tetrabenazine-(50 mg) in divided doses.

• Recommendation-

 Lifestyle and home remedies

 Managing Huntington's disease affects the person with the disorder, family members and other in-home caregivers. As
the disease progresses, the person will become more dependent on caregivers. Several issues will need to be addressed,
and the ways to cope with them will change over time.

•  

 Eating and nutrition

 Factors regarding eating and nutrition include the following:

•  

 Difficulty maintaining a healthy body weight. This may be caused by difficulty eating, higher caloric needs due to physical
exertion or unknown metabolic problems. To get adequate nutrition, you may need to eat more than three meals a day
or use dietary supplements.

 Difficulty with chewing, swallowing and fine motor skills. These problems can limit the amount of food you eat and
increase the risk of choking. It may help to remove distractions during a meal and select foods that are easier to eat.
Utensils designed for people with limited fine motor skills and covered cups with straws or drinking spouts also can help