Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0030552 (paresis)
 5,831 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Four patients without symptoms of episodic hyperkalemic weakness from two families with paramyotonia congenita (Eulenburg) are described. 1. Maximum voluntary muscle contraction of the upper and lower arm was studied under isometric conditions at different temperatures. If the temperature was lowered stepwise, distinct paresis occured at 32--31 degrees C which increased with the amount of muscular effort. The upper arm muscles, however, developed weakness gradually after cooling. 2. During cooling of the resting muscle, the EMG showed dense spontaneous activity of the fibrillary type, which decreased again at about 30 degrees C. It can be assumed that in paramyotonia congenita cooling produces muscle cell membrane depolarization which at a critical level causes the firing of action potentials and finally muscular paresis. 3. Increasing muscular stiffness can be interpreted as abnormally slow muscular relaxation after isometric contraction. In the forearm muscles the time to 3/4 relaxation after cooling was about six times normal, in the upper arm muscles only two times normal. As an additional parameter the mechanical resistance to passive stretching of a muscle has been studied. This passive muscular tension increased simultaneously with the onset of weakness. 4. The close relation between weakness and stiffness suggest that both symptoms are caused by the same basic defect which is probably located in the sarcolemma. It is suggested that a defect of the sodium channel causes a cooling-dependent increase in sodium conductance. Raised intracellular sodium causes in the first place membrane depolarization, and in the second place depression of calcium reuptake through competition by sodium for calcium binding sites. This would explain muscle stiffness and delayed relaxation as well.
 ...
PMID:Influence of temperature on isometric contraction and passive muscular tension in paramyotonia congenita (Eulenburg). 9 68

This study reports on clinical and electromyographical findings which were obtained from an examination of male dizygotic twins and their father, who all suffered on a paramyotonia congenita. A simple coldness test can be used to distinguish paramyotonia congenita from myotonia congenita. Systematic cooling of the muscle of subjects with paramyotonia congenita leads to muscle stiffness and paresis, and finally to paralysis. An electromyographic analysis was carried out at various degrees of coldness. More than 300 paramyotonic series of discharges were analysed in respect to duration, amplitude and frequency. The results showed that the paramyotonic series are more similar to those of dystrophia myotonica than those of myotonia congenita.
 ...
PMID:[Paramyotonia congenita: clinical and electromyographical tests (author's transl)]. 82 44

Stiff-legged gait, ascribed to limited knee flexion during swing in spastic paresis, has previously received little detailed investigation. In this study, data from 23 patients referred for dynamic electromyographic evaluation of spastic stiff-legged gait were analyzed to identify timing of the activity of eight muscles during the gait cycle. Stride characteristics and foot switch data were also analyzed. Inappropriate activity in at least one of the quadriceps muscles during the preswing and/or initial swing phases was found in all 23 patients. Nine patients (39%) had hamstring activity during preswing. This group of 9, compared with the other 14 patients, had a significant reduction in average gait velocity and stride length (P less than 0.05) suggesting that preswing hamstring activity in stiff-legged gait may be counterproductive. No relation was found between biceps femoris (short head) activity and the amount of peak knee flexion attained in swing indicating that other factors are more important in attaining knee flexion. Delayed heel rise was observed in 21 patients (91%), which could imply insufficient calf muscle strength. Further, patients with markedly delayed heel rise achieved less peak knee flexion in swing than patients with normal or only moderately delayed heel rise (P less than 0.05). This may support the notion that adequate calf muscle strength is important in initiating knee flexion in the terminal stance/preswing phase. Results from this study provide preliminary quantitative information about stiff-legged gait that may prove useful in guiding management techniques.
 ...
PMID:Stiff-legged gait in spastic paresis. A study of quadriceps and hamstrings muscle activity. 174 98

Is characterized by several various signs. One of these, spasticity, involves a velocity dependent increase in muscle stiffness during stretch and by hyperactive tendon jerks. When intense, spasticity impedes residual strength in antagonistic muscles and interferes with attempts to move, especially if complicated by clonus and/or spasms. Assessment of spasticity is multifactorial and implies clinical as well as instrumental methods. The pathophysiological mechanisms responsive for the hyperexcitability of the myotatic reflex can be studied by methods of clinical neurophysiology. It appears that there are various factors involved at the spinal level, involving reduction in both pre- and post-synaptic inhibitions. Although spasticity is not responsible for the major part of the disability imposed by upper motor neurone syndrome, it should be reduced. The therapeutic methods are medical, surgical or from physical medicine. In many cases, the results have been validated by blind studies. As paresis is the most disabling effect, it would be worthwhile to develop drugs able to reduce spasticity and increase muscle strength at the same time. Recent trials suggest than TRH-T may be effective in this regard.
 ...
PMID:[Pyramidal syndrome: its physiopathology and treatment]. 269 2

The term spasticity is used to describe many relatively unrelated syndromes and, because they share few common pathophysiologic mechanisms, it is not possible to define the physiology or pharmacology of spasticity. In patients with spastic paresis, it is the latter negative symptom (rather than the spasticity) that accounts for almost all the functional disability. Clinical neurophysiologic techniques are useful for categorization of patients with clinically identical syndromes into subgroups which respond to different therapies. Fusimotor or spindle primary afferent hyperactivity have not been demonstrated in spastic patients; reduction in central inhibitory mechanisms probably accounts for spastic hyper-reflexia. Increased passive muscle stiffness may also be clinically significant. Therapies for spasticity include elimination of causative or enhancing factors, frequent muscle stretching, surgical approaches and chemotherapy. The latter includes dantrolene (which weakens muscles), baclofen (particularly useful for reduction of flexor spasms and flexor dystonia in patients with spinal lesions) and diazepam.
 ...
PMID:Physiologic and pharmacologic approaches to spasticity. 332 74

Based on the results of several electrodiagnostic and biomechanical studies, the following classification of muscle dysfunction in spastic hemiplegia is proposed: changes in muscle activation (excess symptoms, e.g., spasticity, and deficit symptoms, e.g., paresis); changes in muscle stiffness; and changes in muscle length. The clinical significance of this classification is that different types of muscle dysfunction might require specific treatment. The authors have developed techniques to measure quantitatively each type of muscle dysfunction: free frequency repetitive movement (FFRM) and torque angle diagram (TAD). Surface EMGs of tibialis anterior, gastrocnemius, and soleus muscle are recorded during active (FFRM) and passive (TAD) ankle movements. EMG data are converted to parameters for abnormal muscle activation (excess and deficit symptoms). Parameters for muscle stiffness and muscle length are derived from the hysteresis curve of the TAD. This article describes the measurements and the results of a validation study. For the validation study, four hypotheses were formulated: 1) in nonimpaired control subjects, parameters expressing abnormal muscle activation are low; 2) in hemiplegic subjects, differences between the affected and the unaffected sides will be found for all types of parameters; 3) after local anaesthesia of the tibial nerve on the hemiplegic side, excess symptoms will decrease, while muscle stiffness remains unchanged; and 4) despite a uniform gait pattern, between-subject differences can be detected with regard to muscle activation, stiffness, and length. The first hypothesis was tested and confirmed in two controls; the remaining three were tested and confirmed in ten hemiplegic subjects (mean age 47.7 yrs, mean time since onset 10.7 yrs). However, the level of co-contraction of the gastrocnemius muscle was low, probably indicating that the clinical significance of this phenomenon might be limited. The results support the validity of the proposed classification and measurements.
 ...
PMID:Measurement of impaired muscle function of the gastrocnemius, soleus, and tibialis anterior muscles in spastic hemiplegia: a preliminary study. 970 15

We present a 67-year-old non-diabetic male who presented with muscle cramps, paresis, atrophy and fasciculations in the left leg, followed by rapidly progressive muscle stiffness and superimposed spasms which subsequently also affected the right leg and the trunk. GAD65 autoantibodies were elevated in serum and CSF, compatible with systemic and intrathecal synthesis of oligoclonal and high-avidity autoantibodies, and GAD65 specific T cells were clonally expanded in the CSF. The patient did not respond to GABAergic and immunomodulatory treatment or plasma exchange, and died from respiratory failure after 18 months. Autopsy revealed unilateral axonal swelling, chromatolysis and vacuolisation of anterior horn cells of the lower spinal cord, accompanied by microglia proliferation and discrete infiltration of CD8+ cytotoxic T cells. No CD4+ T helper cells, B cells or complement deposition were detected. To our knowledge, this is the first report of stiff person syndrome with lower motor signs restricted to a lower limb, and also the first attempt to characterize the infiltrating T cells. The finding of CD8+ cytotoxic T cells in the absence of B cells in the inflamed area of the spinal cord suggests that the intrathecal synthesis of GAD65 autoantibodies takes place in areas of the CNS not strictly related to the clinically relevant lesions.
 ...
PMID:Stiff person syndrome associated with lower motor neuron disease and infiltration of cytotoxic T cells in the spinal cord. 1961 70

Paramyotonia congenita (PC), first described in 1886 by Eulenberg, is characterized by cold and exercise-induced muscle stiffness and intermittent flaccid paresis not necessarily related to cold or myotonia. Several authors segregated a pure form of PC, which has no periodic paralysis, even after cold exposure. The existence of this phenotype has been debated in the literature. We describe electrophysiological and molecular genetic features of a patient with PC who had no history of periodic paralysis. Immersion in cold water or potassium load could not induce clinical paralysis. However, repetitive nerve stimulation and exercise test demonstrated a drop in compound muscle action potential amplitude. Genetic analysis revealed the substitution of valine for glycine on the human skeletal muscle sodium channel (SCN4A) gene. The G1306V mutation is rare in the classic form of PC, and moreover might be the first in pure paramyotonia.
 ...
PMID:A case of paramyotonia congenita without periodic paralysis: electrophysiological and molecular genetic studies. 2044 32