Control of movement cerebral cortex thalamus basal ganglia cerebellum brain stem muscles: movement spinal cord receptors

Neuromuscular transmission Cl- channel dihydropyridine rec. ryanodine rec.

Diseases of neuromuscular transmission Autoimmune myasthenia gravis acquired, antibodies against  subunit of N receptor (immunogenic region) Congenital forms of myasthenia gravis heterogeneous origin: deficit of Ach-esterase slow-channel syndrome (ion channel of N receptor) Lambert-Eaton syndrome antibodies against Ca 2+ channel

Diseases of muscle excitability Myotonia myotonic muscular dystrophy, myotonia congenita, paramyotonia congenita myotonia congenita: Cl- channel Periodic paralyses normo- hyper- hypokalemia hyperkalemic: Na+ channels (noninactivating) Malignant hyperthermia ryanodine receptor

Myopathies Muscular dystrophies: Duchenne, Becker: X linked recessive, Xp21, dystrophin Limb girdle dystrophies: autosomal, sarcoglycans Congenital muscular dystrophy: laminin (merosin) Myopathies associated with inborn errors of metabolism (lipid, glykogen, oxidative phosphorylation) Acquired myopathies: inflammatory endocrine toxic

Lower motor neuron alpha-motor neurons various etiology neuronopathies (soma) radiculopathies (spinal root) neuropathies (nerve) paresis-plegia hypotonia of affected muscles hyporeflexia of muscle stretch reflexes atrophy of affected muscles fasciculations, fibrillation potentials (EMG)

Upper motor neuron descending motor tracts cerebral cortex-spinal cord various etiology paresis-plegia spasticity of affected muscles hyperreflexia of muscle stretch reflexes positive Babinski sign response no atrophy

The Basal ganglia nc. caudatus putamen globus pallidus: ext., int. substantia nigra: pars compacta, reticulata nc. subthalamicus thalamus r. c. e. i.

g.pallidus int. / s. nigra ret. Internal loops cerebral cortex Glu GABA/Enk Dopamin D1 g. pallidus ext. striatum (Ach) D2 GABA GABA/P s. nigra comp. Glu Glu nc. subtalamicus g.pallidus int. / s. nigra ret. GABA Indirect: decrease of cortical excitability Nigro-striatal: decrease Direct: increase of cortical excitability Nigro-striatal: increase thalamus Glu cerebral cortex

Hypokinetic disorders akinesia (initiation of movements) bradykinesia (slowness of movements) rigidity flexed posture resting tremor (acral parts) vegetative signs (increase of salivation, sweating) Loss of influence of the nigro-striatal pathway: overactivity in the indirect pathway (inhibitory) relative increase of ACh over DA in the striatum Parkinson´s disease: idiopathic neurodegenerative disease Parkinsonlike states: vascular, viral, anoxia

Hyperkinetic disorders dyskinesias: athetosis, chorea, ballism, dystonia hypotonia Huntington´s chorea autosomal dominant (trinucleotid disease) chromosome 4, huntingtin CAG (glutamine), normal < 40, affected > 40 cholinergic and GABAergic cells : striatum cerebral cortex (dementia)

Cerebellar disorders ataxia: stance, gait, balance asynergia: coordination during multi-joint movements dysdiadochokinezia: alternating movements dysmetria: reaching of targets action tremor hypotonia central part: (axial and proximal limb muscles) stance, gait, balance, asynergia lateral part: (distal limb muscles) dysmetria, dysdiadochokinezia, action tremor, hypotonia

Spinal ataxia Vestibular ataxia Apraxia dorsal columns pathways tactile and proprioceptive sensation depends on the eye control loss of conscious perception of position Vestibular ataxia vestibular system depends on the head position Apraxia learned voluntary movement motor associative areas prefrontal, posterior parietal