Professional Documents
Culture Documents
Hereditary Diseases of Nervous System
Hereditary Diseases of Nervous System
Hereditary Diseases of Nervous System
diseases of
nervous system
Diseases with involvement of
nervous – muscle synapse:
– Myasthenia
– Myasthenic syndromes
Myasthenia gravis (MG)
Asymmetric lesion
Dynamic symptoms (the signs increase in the evening)
Ophthalmoplegia is a very common symptom. The other
ones are:
- Weakness of mimic muscles – especially oral muscles.
- Weakness of chewing muscles.
- Weakness of pharyngeal, laryngeal muscles and muscles of
tongue
- Tongue muscles function disorders
- Breathing disturbances
- Extremities function disturbances (especially proximal
parts)
- Neck muscles weakness – hanging of the head
- Body muscles weakness that leads to duck – like gait
Sensory and pelvic disorders usually are not observed.
Tests for disease revealing
The patient is asked to look upwards or inside during 30
seconds in order to cause ptosis
He is asked to read text aloud in order to cause
dysarthria
The patient is asked to make 100 chewing movements
in order to reveal the weakness of these muscles
Proserine test. Proserine is introduced in dose 1.5 – 3
ml s/c, sometimes Atropinum is used in order to prevent
side effects. In 20–40 min all the signs of myasthenia
disappear. In 2–3 hours all the symptoms appear again
Diagnosis
– Plasmapheresis
– Ig i/v (2 g per kg 2 – 5 days)
– Corticoids (100 mg prednisonum)
– Proserinum 1 – 2 ml i/v
– SLV, oxygen
– Halloperidolum at excitation
Cholinergic crisis
Hypokinesia
Rigidity
Resting trembling
Loss of postural reflexes
Rest tremor
at a frequency of 4 to 5 Hz is present in the
extremities, almost always distally
the classic "pill-rolling" tremor involves the thumb
and forearms
disappears with action but reemerges as the limbs
maintain a posture
common in the lips, chin, and tongue
tremor of the hands increases with walking and
may be early sign when others are not yet present
stress worsens the tremor
Rigidity
increase of muscle tone that is elicited when the
examiner moves the patient's limbs, neck or trunk.
this increased resistance to passive movement is
equal in all directions and usually is mat by a
ratchety "give" during the movement.
so-called cogwheeling is caused by the underlying
tremor even in the absence of visible tremor.
Cogwheeling also occurs in patients with essential
tremor.
rigidity of the passive limb increases while another
limb is engaged in voluntary active movement
Flexed posture
The commonly begins in the arms and spreads to involve
the entire body.
The head is bowed
the trunk is bent forward
the back is kyphotic
the arms are held in front of the body
the elbows, hips, and knees are flexed
Deformities of the hands include ulnar deviation of the
hands, flexion of the metacarpal-phalangeal joints, and
extension of the interphalangeal joints (striatal hand)
Inversion of the feet is apparent, and the big toes may
be dorsiflexed (striatal toe)
Lateral tilting of the trunk is common.
Akinesia
Bradykinesia (slowness of movement, difficulty initiating movement, and loss of
automatic movement) and hypokinesia (reduction in amplitude of movement,
particularly with repetitive movements, so-called decrementing)
The face loses spontaneous expression (masked facie: hypomimia) with
decreased frequency of blinking.
Poverty of spontaneous movement is characterized by loss of gesturing and by
the patient's tendency to sit motionless.
Speech becomes soft (hypophonia, and the voice has a monotonous tone with
a lack of inflection (aprosody).
Some patients do not enunciate clearly (dysarthria) and do not separate
syllables clearly, thus running the words together (tachyphemia).
small and slow handwriting (micrographia) and in difficulty shaving, brushing
teeth, combing hair, buttoning, or applying makeup.
Playing mi instruments is impaired.
Walking is slow, with a shortened stride length and a tendency to shuffle;
swing decreases and eventually is lost.
Difficulty rising from a deep chair, getting out of automobiles and turning in
bed are symptoms of truncal bradykinesia.
Drooling saliva results from failure to swallow spontaneously, a feature of
bradykinesia, and is not caused by excessive production of saliva.
The main clinical forms
Trembling
Rigidity
Mixed
Severity stages:
I – loss of activity, but that doesn’t influence
on professional activity and working ability
II – moderate loss of professional activity
III – the patients need someone to look
after him
Drug Therapy
Carbidopa is listed as the peripheral dopa
decarboxylase inhibitor, but in many
countries benserazide is also available
Amantadine, selegiline, and the
anticholinergics are reviewed in following
sections
Antidepressants are needed for treating
depression
Triatment
Basic therapy:
Nootrops
Cinnarizini
Cavintoni
Adequate dose of antiparkinsonic drugs
Surgery therapy:
Stereotaxis operations
Deep electrostimulation of brain structures
Method for case of no effective of drug therapy
Hepatocerebral dystrophy (HCD)
( Wilson – Konovalov disease)
This disease is connected with disorders of
ceruloplasminum metabolism.
Ceruloplasminum is a blood protein
responsible for Cu transport. It is produced
in liver. Pathologically there is
accommodation of Cu in subcortical
ganglions (especially n. Lenticularis), brain
cortex, cerebellum, liver, spleen, iris.
Transmission: genetically autosomal –
recessive. And it is observed in male and
female with the same frequency.
Clinical signs
The first signs of the disease are observed in early childhood.
neck stiffness
different hyperkinesis and psychiatric changes
Sometimes seizures can be observed
liver enlargement.
Kaizer – Fleishner ring in the iris.
Konovalov classification types of the disease:
Rigid – arythmokinetic
Trembling – rigid
Trembling
Extrapyramidal – cortical
Sometimes the disease manifests only as liver insufficiency
and neurological signs are joined later.
Diagnosis
Family history
The typical signs of the disease – Kaizer –
Fleishner ring, lesion of liver, low quantity of
ceruloplasminum in the blood, increased
quantity of Cu in urine.
Differential diagnosis
Huntington disease
MS
Chronic stage of epidemic encephalitis
Torsion dystonia
The pathology of the disease includes
degenerative changes of subcortical
ganglions, subthalamic nuclei and n.
Dentatus of cerebellum as a result of
neuromediators production and metabolism
disturbances.
Hyperkinetic form of the disease has
autosomal – dominant type of inheritance.
Rigid form of the disease is characterized by
autosomal – recessive type of inheritance.
Clinical features
The disease begins in early childhood
permanent progression
hyperkinesis that increases with every movement.
hyperkinesis may have a look of tonic body and extremities
muscle straining
Spastic torticollis is one of the earliest symptoms of the
disease.
There are no mental disorders in typical cases.
There are generalized form of the disease and local ones, such
as spastic torticollis and chirospasm.
Diagnosis
Family history and the evaluation of pathological process
dynamics are necessary for the diagnosis putting.
Differential diagnosis
Atypical form of Economo encephalitis
Huntington disease
– Myotonia Tomsena
– Atonic myotonia