METHODICAL INSTRUCTION FOR STUDENTS OF THE 4 COURSE
MEDICAL FACULTY
LESSON № 14 (PRACTICAL – 6 HOURS)
Theme:
1. Hereditary neuro–muscular diseases: primary myodystrophies (Erb–Rot, Duchenne, Dejerine), neurogenic amyotrophies (Werdnig–Hoffmann, Kugelberg–Velander, Aran–Duchenne, Charcot–Marie–Tooth), Thomson myotonia, paroxysmal myoplegia, Myasthenia Gravis.
2. Genetically – degenerative diseases with dominant lesion of pyramidal (Schtrumpel’s paraplegia), extrapyramidal (Parkinson’s disease, Hepatolenticular degeneration (Wilson’s disease), Torsion dystonia (spasm), Huntington’s chorea) system and cerebellum (Friedreich’s and Mary ataxis).
Aim: To find the patients with the primary myodystrophies, neurogenic amyotrophies, myotonia, paroxysmal myoplegia and myasthenia, to define the type of heredity, to prescribe treatment, to consult in medical-genetic aspects. To know how independently to find the patients with Schtrumpel’s paraplegia, Parkinson’s disease, Hepatolenticular degeneration (Wilson’s disease), Huntington’s chorea, Friedreich and Mary family ataxia.
Professional orientation of students: Knowledge of the clinical features, early diagnosis, prevention and treatment of the epilepsy and convulsive syndromes, of the hereditary laws, early diagnosis, prevention and treatment of the hereditary group diseases are necessary not only for neurologists but every other physicians, clinicians, laboratory assistants, electro physiologists, X-ray assistants etc The therapeutic approach to it is miscellaneous. Besides the doctor of any profile can address the cognates of patients with problems of the forecast of disease, birth of children and so forth. That is why the doctor irrespective of the main speciality should know about the main heritable diseases of a nervous system.
Methodology of Practical Class (9:00-12:00).
Algorithm of students’ communication with patients with pathology in subject (communication skills):
Complaints and anamnesis taking in patients
1. Friendly facial expression and smile.
2. Gentle tone of speech.
3. Greeting and introducing
4. Find a contact with a patient, try to gain his/her confidence
5. Correct inquest, listening to the patient’s explanation.
6. Conversation accomplishment.
Physical methods of examination
1. Friendly facial expression and smile.
2. Gentle tone of speech.
3. Greeting and introducing
4. Find a contact with a patient, try to gain his/her confidence
5. Explain to the patient the nessessity of the examination and its aim, get his/her informed consent
6. Explain to the patient examination details, its safety and possible sensations
7. Prepare for the examination (clean, warm hands, ets.)
8. Explain to the patient results of his/her tests correctly and accesibly
9. Conversation accomplishment.
Informing about the results of examination
1. Friendly facial expression and smile.
2. Gentle tone of speech.
3. Greeting and introducing
4. Interpretation of test results
5. Calm a patient in the case of precense of pathological changes, inform about the following actions
6. Assure in positive changes and favourable prognosis at implementation of all of the medical recommendations
7.Conversation accomplishment
Work 1. Hereditary neuro-muscular diseases: primary myodystrophies (Erb-Rot, Duchenne, Dejerine), neurogenic amyotrophies (Werdnig-Hoffmann, Kugelberg-Velander, Aran-Duchenne, Charcot-Marie-Tooth), Thomson myotonia, paroxysmal myoplegia, Myasthenia Gravis.
Step I: Aim: to determine the clinical diagnosis. It is necessary:
1. To examine the patient (history, somatic-neurological state).
2. To use the results of the laboratory investigation (general and biochemical blood and urine analyses, EEG, craniography, tomography).
3. Make the differential diagnosis using the algorithm.
Step II. To prescribe treatment. It is necessary to use a principle of the pathogenic correction:
1. treatment of myodysthrophias:
a) diet;
b) drugs – protein remedies, amino acids, vitamins, macroerges, biostimulators, spasmolytics, ganglioblocators, anticholinesterase drugs, CAMP-regulators;
c) physiotherapeutic methods – electrophoresis, massage, remedial gymnastics, mineral wax (ozocerite), bathes;
d) provide facilities in health reports.
2. treatment of Thomson’s myotonia:
a) diet;
b) drugs – quinine in the dose of 0,3 to
c) phonophoresis, faradizations, massage.
3. treatment of myasthenia:
a) drugs – anticholinesterase remedies (Prostigmin, Mestinon), kalium salts, glucocorticoids, anabolic hormones, immunosuppressive therapy;
b) surgical treatment: thymectomia;
c) X-ray treatment;
d) the treatment of the crisis is in the “Drug therapy of the urgent neurological clinical cases”.
4. treatment of paroxysmal myoplegia:
a) if there is a type of hypokaliemia: cilium chloride, verospirone, amyloride, diet rich of cilium.
b) if there is a type of hyperkaliemia: hypothiazide, calcium, gluconate, insulin with glucose and kalium free diet.
Step III. Aim: medical genetic consultation and prevention. Taking on account a heredity type ans gene’s penetration to estimate a probability of a sick child birth.
Work 2. Genetically – degenerative diseases with dominant lesion of pyramidal (Schtrumpel’s paraplegia), extrapyramidal (Parkinson’s disease, Hepatolenticular degeneration (Wilson’s disease), Torsion dystonia (spasm), Huntington’s chorea) system and cerebellum (Friedreich’s and Mary ataxis).
Step I: Aim: to determine the clinical diagnosis. Definition of the clinical form of genetically – degenerative disease with a lesion of pyramidal, extrapyramidal system and cerebellum. It is necessary:
1. To examine patient (genetic anamnesis, somatic status);
2. To conduct differential diagnostic according to algorithm of the differential diagnosis of genetically – degenerative diseases with a lesion propulsion systems;
3. To formulate the clinical diagnosis.
Step II: Aim: To prescribe treatment. It is necessary to use the principle of pathogenetic correction of disorders at:
а) Parkinson’s disease – cholynolitics, dofaminergical drugs, relaxants, tranquilizers and antihistaminics;
б) Hepatolenticular degeneration (Wilson’s disease) – Cuprenilum (Д-penicylaminum), Unithiolum, diet, poor on brass, by liver therapy
в) Huntington’s chorea – Reserpinum (dopegitum), Haloperidolum, small tranquilizers, Triphtazinum.
Step III: Aim: Medical genetic consultation. It is necessary, taking into account a mode of inheritance and penetrance of a gene, to evaluate probability of birth of the ill child.
Individual Students Program.
You should be prepared for the practical class using the existing textbooks and lectures. Special attention should be paid to the following:
Theme 1. Hereditary neuro-muscular diseases: primary myodystrophies (Erb-Rot, Duchenne, Dejerine), neurogenic amyotrophies (Werdnig-Hoffmann, Kugelberg-Velander, Aran-Duchenne, Charcot-Marie-Tooth), Thomson myotonia, paroxysmal myoplegia, Myasthenia Gravis.
1. To study classification, pathogenesis, pathomorphology, clinical picture, diagnosis and treatment of the myopathias:
a) classification of the myopathias
b) pathogenesis and pathology of the primary and secondary (neurogenic) myodystrophias
c) clinical picture of the primary myodystrophias by Erb-Rot, Duchenne, Dejerine
d) clinical picture of the neurogenic amyotrophias by Charkcot-Marie-Tooth, Werdnig-Hoffmann, Kugelberg-Velander, Aran-Duchenne
e) forming of the genus history and determining of the heredity type
f) differential diagnosis of the primary and secondary myodystrophias
g) the treatment of the myodystrophias
2. To study Thomson myotonia
a) pathogenesis of the myotonia
b) clinical picture
c) diagnosis and treatment
3. To study the paroxysmal myoplegia
a) pathogenesis
b) clinical picture
c) diagnosis and treatment
4. To study the Myastenia Gravis
a) pathogenesis and pathomorphology
b) sympthomathology and clinical types
c) myasthenic and cholinergic crisis
d) diagnosis of the myasthenia, myasthenic and cholinergic crisis
e) treatment of the myasthenia, urgent aid for myasthenic and cholinergic crisis
Theme 2. Genetically – degenerative diseases with dominant lesion of pyramidal (Schtrumpel’s paraplegia), extrapyramidal (Parkinson’s disease, Hepatolenticular degeneration (Wilson’s disease), Torsion dystonia (spasm), Huntington’s chorea) system and cerebellum (Friedreich’s and Mary ataxis).
1. Schtrumpel’s family spastic paraplegia:
а) mode of inheritance
б) pathomorfology
в) clinical feature
d) treatment.
2. Parkinson’s disease:
а) mode of inheritance
б) pathomorfology
в) pathogeny
г) clinical feature, clinical forms
д) treatment
3. Hepatolenticular degeneration (Wilson’s disease):
а) mode of inheriting
б) pathanatomy
в) pathogeny
г) clinical feature, clinical forms
д) treatment.
4. Torsion dystonia:
а) type of inheritance
б) pathomorfology
в) clinical feature, treatment.
5. Friedreich and Mary family ataxia:
а) mode of inheritance
б) pathanatomy
в) clinical feature and treatment.
6. Medical genetic consultation and preventive measures of genetically – degenerative diseases with a primary lesion of propulsion systems.
Seminar discussion of theoretical issues (12:30-14.00).
Test evaluation and situational tasks.
Tests
1. The types of heredity of the: a) Duchene; b) Erb-Rot; c) Dejerinne dystrophies.
2. The types of heredity of the neurogenic amyothrophias by: a) Hoffmann; b) Kugelberg-Velander; c) Aran-Duchenne; d) Charcot-Marie-Tooth.
3. The types of heredity of Thomson myotonia.
4. The main symptoms of the myopathy, followed by the pelvic girdle atrophy.
5. The main symptoms of the myopathy attended with shoulder girdle atrophy.
6. The main symptoms of the myopathy attended with glacial muscles atrophy.
7. Clinical differential symptoms of spinal (a) and neural (b) amyothrophias.
8. Differential pathogistologic signs of primary (a) and secondary (b) muscular dystrophies.
9. Pharmacological pathogenic groups of the drugs for myasthenia treatment.
10. Main differential signs of the myasthenia, its clinical types.
11. Pharmacological pathogenic groups of the drugs and physiotherapy for the myodysthrophias treatment. Prescribe vit. E in solution.
12. Remedies and physiotherapy to treat Thomson myotonia. Prescribe defining.
14. What are chances to inherit once at the Myasthenia?
15. Clinical types of the paroxysmal myoplegia.
16. Types of inheritance of Schtrumpel’s paraplegia (а), Parkinson’s disease (b), Hepatolenticular degeneration (Wilson’s disease) (c), Huntington’s chorea (d).
17. Types of inheritance of Friedreich (a) and Mary (b) ataxis.
18. Clinical forms of Parkinson’s disease.
19. Clinical forms of Hepatolenticular degeneration (Wilson’s disease).
20. The main syndrome of Schtrumpel’s dyplegia.
21. The main syndrome of Parkinson’s disease.
22. The main syndrome of Hepatolenticular degeneration (Wilson’s disease).
23. The main syndrome of Huntington’s chorea.
34. The main syndrome of Friedreich’s ataxia.
25. The main syndrome of Mary ataxia.
26. Treatment of Schtrumpel’s paraplegia. Prescribe Mydocalm in injections.
27. Treatment of Parkinson’s disease. Pathogenetic groups of medicines.
28. Treatment of Hepatolenticular degeneration (Wilson’s disease).
29. Treatment of Huntington’s chorea.
30. Give advice concerning the future to the patient with Huntington’s chorea about birth of the children.
Real-life situations to be solved:
1. What are chances sick child to be born in a family where the father suffers on the Thomson myotonia?
2. What are chances sick child to be born in a family where the mother heterozygous on myodystrophy Duchene gene?
3. Define the paternal and sick child genotype; child suffers on Erb-Rot’s dystrophy.
4. For the outwardly able-bodied parents the son is sick on Friedreich’s ataxia. To define a genotype of the parents and child.
5. What probability of birth of the ill child in family, where the father has Huntington’s chorea?
6. What genotype of children in the family with Schtrumpel’s paraplegia?
Initial level of knowledge and skills are checked by solving situational tasks for each topic, answers in test evaluations and constructive questions.
Student should know:
1. Classification of the epileptic attacks,myopathy
2. Pathogenesis of the epilepsy and convulsive syndromes, myopathy.
3. Treatment of the epilepsy and convulsive syndromes, myopathy.
4. Clinical feature of Schtrumpel’s family spastic paraplegia
5. Clinical feature of Parkinson’s disease, Hepatolenticular degeneration, Torsion dystonia, . Friedreich and Mary family ataxia.
Student should be able to:
- Examine the patients and to diagnose epilepsy and convulsive syndromes, myopathy, genetically – degenerative diseases
- Prescribe treatment for the patients with epilepsy and convulsive syndromes, myopathy, genetically – degenerative diseases
Correct answers of test evaluations and situational tasks:
1. 50%.
2. 25%.
3. Parents are: Aa x Aa; the sick child is aa genotype.
4. Parents Аа х Аа, child – аа
5. 50 %
6. Ss, ss
Independent work of students (14:15-15:00).
References:
А – Basic:
1. WEB-site of tdmu.
2. Basic Neurology. Second Edition. John Gilroy, M.D. – McGraw-Hill International edition.- Pergamon Press.- 1992
3. Merritt’s Textbook of neurology. – 7th edition. – Edited by Lewis P. Rowland.
4. Neurology for house officer. – 3th edition.
В – Additional:
6. Handbook of Symptom Oriented Neurology/ William H. Olson, Roger A. Brumback, Generoso Gascon, Vasudeva Iyer, Year book medical publishers, Inc.
7. Neurology in lectures. Textbook. Edited by the head of Neurology Department – prof. S.І. Shkrobot. – 2006.
Methodical instruction has been worked out by: dotsent N.R. Sokhor
Methodical instruction was discussed and adopted at the Department sitting
29.05.2013 . Minute № 9
Methodical instruction was adopted and reviewed at the Department sitting
__________201 . Minute № ___
