Download 28 Hereditary-degenerative diseases

METHODICAL INSTRUCTIONS
FOR INDIVIDUAL WORK OF STUDENTS IN PREPARATION FOR
PRACTICAL CLASSES
Subject
. Topic.
Neurology
Hereditary-degenerative diseases of
nervous system
Year
IV
Faculty
Medical
1. Topicality: Quantity of diseases due to pathological heredity increases
because of lifetime increasing, decreasing of sickness rate connected with
exogenous factors, decreasing of children death rate and also environmental
pollutions, wide using of high energy in production and chemicalixation of
agriculture. Regularity of mutations is manifestation of gene in whole body.
Mutant gene is inherited further. A disease is not inherited but proper genetic
factor which manifestation depends on other factors of body interaction with
environment is inherited.
A physician of any specialty needs to get acquainted with basic
hereditary diseases of nervous system because there are phenocopies caused by
exogenous factors. Therapeutic methods of these two groups can be different.
Besides, relatives of patients can make a request about determining of prognosis
for a disease, and also prognosis for procreation in each proper case. These
questions can be asked to a physician of any specialty. So a physician of any
specialty must have a view about basic hereditary diseases of nervous system.
2. Specific purposes:

To analyze neurological manifestations of hereditary-degenerative diseases of
nervous and muscle system, extrapyramidal system, pyramidal system and
cerebellar system.

To learn principles of classification of hereditary-degenerative diseases of
nervous system.

To learn modern aspects of etiopathogenesis, clinical forms and treatment of
hereditary-degenerative diseases.

To interpret clinical forms of hereditary-degenerative diseases.

To master the principles of prophylactic of hereditary-degenerative diseases of
nervous system.

To be able to diagnose amyotrophic lateral sclerosis, to know its clinical forms
and methods of first aid.
3. Basic knowledge, skills and competences which are necessary for topic
studying:
#
Subject
1
Human anatomy
2
General Physiology
3
Physiopathology
4
Human pathology
5
Pharmacology
Received skills
To know the structure of central and peripheral
nervous system; white substance and grey
substance of brain, stages of nervous system
To know the function of motor system, nervous
and muscle system, myoneural junction
To know autoimmune demyelinating process in
nervous system
Defects of nervous system development; atrophic
changes in muscles; trophic changes in body
tissues.
Immunoprotectors, anticholinesterase drugs,
glucocorticoids.
4. Tasks for individual work during preparation for classes:
а) The list of the basic terms, characteristic, which students must master in
preparation for the class:
a.
b.
c.
d.
e.
f.
g.
h.
i.
j.
k.
Progressive muscle dystrophies
myotonia
myasthenia , myasthenic crisis and cholinergic crisis.
hepatolenticular lenticular
muscle dystonia , chorea
Spinal-cerebral ataxia
Parkinson's disease
Hereditary spastic paraplegia
Muscle rigidity, plastic waxy flexibility
Bradykinesia, hypokinesia
Static tremble
б) theoretical questions to the classes:
1. Classification of hereditary-degenerative diseases of nervous system.
2.Progressive muscle dystrophies – primary (myopathy) and second (amyotrophy)
3. Myotonia
4. Myasthenia. Myasthenic syndromes. Paroxysmal myoplegia.
5. Hepatocerebral degeneration (Konovalov-Wilson’s disease)
6. Hungtington’s disease
7. Modern biochemical aspects of Parkinson’s disease and its treatment
8. Muscle dystonias
9. Spinocerebral ataxia. Hereditary ataxia. Friedreich's hereditary ataxia.
10. Hereditery spastic paraplegia. Strümpell's disease.
11. Amyotrophic lateral sclerosis.
в) The list of practical skills to be mastered at the classes:
1. Individual examination of the patients with hereditary-degenerative diseases of
nervous system and amyotrophic lateral sclerosis.
2. Determining of basic syndrome in a patient.
3. Substantiation of niveau diagnosis in the patient with hereditary-degenerative
diseases of nervous system.
4. Determining of aetiology, peculiarities of pathogenesis, course of hereditarydegenerative diseases and their complications.
5. Substantiation of treatment prescribed to a patient.
6. Determining of prognosis of disease course in given patient.
7. Interpretation of basic findings of additional examinational methods of patients
with hereditary-degenerative diseases of nervous system (electromyography,
magnetic resonance tomography, electroencephalography)
5. Student’s self-preparation curriculum
1. To learn theoretical questions of lesson 31 (see the list of theoretical questions
and sources)
2. To know the methods of examination of patients with herediatary-degenerative
diseases of nervous system.
3. To get acquainted with tests and situational tasks and know right answers
(collection of test questions and tasks – part “ Demyelinating and herediatarydegenerative diseases ”)
6. Materials for self-control:
1. To get acquainted and know right answers to tests and situational
tasks(collection of test questions and tasks – module 2, topical module 5, part “
herediatary-degenerative diseases”)
2. To get acquainted with case histories with discussing and explanation (textbook
“Clinical neurology”, parts “hereditary-degenerative diseases”, “hereditary
diseases of neuromuscular system”)
Information Sources
Lecture
1. Shcrobot S.I., Hara I.I. Neurology in lecture (Selected lectures) . Ternopil,
TSMU, «Ukrmedknyha», 2008. 319 p.
2. Reinhard Rohkamm. Color Atlas of Neurology © 2004 Thieme. 440 p.
3. Crash course Neurology by Anish Bahra and Katia Cikurel. Copyright 2006,
Elsevier, Inc. 244 p.
4. Adams and Victors. Principles of neurology. © 2005 McGraw-Hill . Medical
Publishing Division.
5. Mayo Clinic Internal Medicine Review 2006-2007. Chapter 18. Editor-in-Chief
Thomas M. Habermann, MD