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Friedreich's ataxia, with retained lower limb tendon reflexes, in a Saudi Arabian family.

Friedreich's ataxia (FA) was studied in a large inbred Arab family living near Jeddah, Saudi Arabia, in which DNA linkage studies localised the disease gene to 9q13-q21.1. Five siblings (aged 19-35 years), and their 27 year old cousin, had the typical features of FA, however in two patients, tendon reflexes were retained and were indeed brisk in the lower limbs, 13 and 19 years respectively after onset of symptoms: retention of lower limb tendon reflexes is exceptional in FA. Another 6 deceased individuals from two related families are presumed to have had FA.

Adult↗

Segmental facial anhidrosis and tonic pupils with preserved deep tendon reflexes: a novel autonomic neuropathy.

A 31-year-old woman had exertional right-sided hemifacial flushing and sweating. Examination demonstrated slightly dilated pupils with absent constriction to light and a tonic near response and redilatation, features consistent with Adie syndrome. Neurological examination was otherwise normal, including preservation of deep tendon reflexes. Magnetic resonance imaging of brain and spine were normal. The combination of unilateral loss of sudomotor and vasomotor activity without loss of ocular sympathetic innervation fulfills the diagnosis of Harlequin syndrome. The combination of Harlequin and Adie syndromes has been called Ross syndrome, but the preservation of deep tendon reflexes precludes a diagnosis of Ross syndrome in our patient. This previously undescribed variant adds further complexity to the spectrum of autonomic neuropathies.

Adie Syndrome↗

Tendon reflexes for predicting movement recovery after acute spinal cord injury in humans.

OBJECTIVE: Use the tendon reflex to examine spinal cord excitability after acute spinal cord injury (SCI), relating excitability findings to prognosis. METHODS: We conducted repeated measures of reflex responses to mechanical taps at the patellar and Achilles tendons of the lower limbs, and the wrist flexor tendons of the upper limbs in persons with acute SCI, beginning as early as the day of injury. The single largest EMG response (peak-to-peak) for each site was recorded. Subjects were compared based on level of injury and final neurologic status of lower limb motor function (i.e. absence of any voluntary recruitment in a lower limb muscle: motor-complete; voluntary recruitment in 1 or more lower-limb muscles: motor-incomplete). RESULTS: We studied 229 subjects with acute SCI. Persons with injury to the cervical or thoracic spinal cord and who were (or became) motor-incomplete showed large tendon responses, even at the time of initial evaluation. In combination with larger tendon response amplitudes, the presence of the 'crossed-adductor' response to patellar tendon taps at the acute stage was highly predictive of functional motor recovery following SCI. In marked contrast, tendon responses were small (e.g. < 0.1 mV) or absent in persons with acute, motor-complete injury (and which remained motor-complete), and the crossed-adductor response was never seen. Reflex amplitudes and the incidence of the crossed-adductor response increased somewhat over time in persons with motor-complete SCI, but did not approach the values seen in motor-incomplete subjects. CONCLUSIONS: Taken together, tendon response amplitude and reflex spread were sensitive and specific indicators of preserved supraspinal control over lower limb musculature in subjects with acute SCI. A simple algorithm using these outcome measures predicted a 'motor-complete' status with 100% accuracy, and a motor-incomplete status with accuracy exceeding 91%.

Achilles Tendon↗

The effect of Jendrassik manoeuvre on the latency, amplitude and left-right asymmetry of tendon reflexes.

In order to determine the effect of the Jendrassik manoeuvre (JM) on the latency and amplitude of the electrically recorded compound action potentials of the tendon reflexes (TR) as well as on their left-right asymmetry, the above parameters of the knee (KR) and Achilles (AR) TR were measured in 52 normal subjects (32 men and 18 women) aged 18-74 years (33 +/- 12.2) both at rest and during the JM, using a commercially available tendon hammer connected with the electromyograph. The left-right difference of the latencies was not statistically significant under both conditions. The knee reflex latency--on both sides--was shortened during the JM, while that of the Achilles tendon reflex was not significantly altered. The difference of the TR amplitude between the two sides in percentage of the lower value was not significant at rest and showed a marked diminution during JM. The manoeuvre caused also a net increase of the absolute values of the compound action potentials amplitude of both reflexes.

Achilles Tendon↗

The effect of exercise, thyroid status and insulin-induced hypoglycaemia on the Achilles tendon reflex time in man.

The effect of moderate exercise on the Achilles tendon reflex half-relaxation time (ART) was observed in 28 hypothyroid, 35 euthyroid, and 20 hyperthyroid subjects of comparable age and sex. Both the resting ART and the decrease after exercise (delta ART) were longer in hypothyroid patients and shorter in hyperthyroid patients as compared to the euthyroid group. delta ART was strongly related to the resting ART rather than to the free thyroxine index. In four hypothyroid subjects, the half-time of recovery of the ART after exercise was similar, approx. 24 min. Insulin-hypoglycaemia in eight resting endocrine patients also caused a fall in ART similar to the post-exercise delta ART in the same patients. A possible catecholamine effect is indicated by the smaller post-exercise delta ART in nine hypertensive patients receiving chronic propranolol treatment, 320 mg daily, than that of a control group matched for age, sex, and resting ART. These studies suggest that submaximal exercise largely removes the differential effect of thyroid status on skeletal muscle contractility as measured indirectly by the ART. The effects of exercise and induced insulin-hypoglycaemia on delta ART may be mediated in part by endogenous catecholamines.

Achilles Tendon↗

The amplitude of the Achilles tendon reflex in infants is related to body position.

In this study, we investigated whether the Achilles tendon reflex (ATR) in healthy infants is modulated by changes in body position (prone vs. supine). The amplitude of the ATR was compared at postnatal day 1, months 2, 3 and 6, while infants were placed in prone and supine position. The ATR was considered "positive" when at least 1 of 20 tendon taps evoked a visible contraction of the ankle plantar flexor muscles. At 6 months, the amplitude and latency of the ATR were evaluated by electromyographic (EMG) recordings of the (lateral and medial) gastrocnemius muscle, with the infant in prone and supine position. At postnatal day 1, the clinical ATR response was more frequently present in prone than supine position (14/16 or 88% vs. 4/16 or 25%, respectively, p < 0.01). From 2 months onwards, the frequencies of positive ATRs were no longer significantly different between prone (14/14 or 100%) and supine position (10/14 or 67%). However, based on the EMG recordings at 6 months, the ATR amplitude was higher in prone compared to supine position (n=8, median 5.5 mV, range 4.7-6.6 mV; and median 3.8 mV, range 2.3-5.6 mV, p < 0.05). We conclude that the ATR response in healthy infants is more pronounced in prone than in supine position, either when clinically (visually) assessed during routine tendon tapping or when neurophysiologically assessed during surface EMG recording.

Achilles Tendon↗

Early-onset ataxia with cardiomyopathy and retained tendon reflexes maps to the Friedreich's ataxia locus on chromosome 9q.

Absence of lower limb tendon reflexes has been considered an essential diagnostic criterion for Friedreich's ataxia (FA). However, preservation of knee and ankle jerks has been reported in a few patients. Linkage analysis to FA locus (FRDA) on chromosome 9q13-21.1 was performed in 11 patients from 6 families with FA phenotype, including cardiomyopathy, but retained reflexes (FARR). A maximal lod score of 3.38 at recombination fraction theta equal to 0.00 was obtained demonstrating that FARR maps to the FRDA locus. These results suggest that FARR is a variant phenotype of FA.

Adolescent↗

Tendon reflex asymmetry by voluntary mental effort in healthy subjects.

The effect of voluntary mental influences on the tendon reflexes was examined in healthy subjects. The patellar reflexes were evoked by a method comparable with the clinical examination, and the reflexes were recorded by surface electrodes. Eighteen subjects were instructed to increase and then decrease the right patellar reflex by mental effort, without contracting any muscles. Most subjects increased the reflex in both conditions. Subsequently, ten subjects were instructed to increase the right patellar reflex and decrease the left by mental effort. Measurement showed reflex asymmetry in seven subjects consistent with the instruction. The experiment was repeated in another 20 subjects with symmetric reflexes at rest. Ten of these subjects were, after random assignment, instructed to increase either the right or the left knee jerk. All subjects (and an additional 15 asymmetric control subjects) were examined by a neurologist without knowledge of the instruction. Three of the ten instructed subjects were correctly judged to be asymmetric, but the agreement between instruction and neurologic judgment was not statistically significant. Mentally induced reflex asymmetry is possible, and may be clinically relevant in some cases.

Adult↗

MSH/ACTH4-10 and task-induced increase in tendon reflexes and heart rate.

Earlier studies revealed that during a binary choice reaction task an increase of tendon reflex amplitudes and heart rate can be found, together with a suppression of heart rate variability. The results were interpreted as a task-induced increase in generalized arousal. In this study two experiments, consisting of a rest period and a binary choice reaction task, were done. In Experiment 1, twenty subjects, in a cross-over design, received 15 mg MSH/ACTH4-10 or a placebo. Only reflexes were recorded. In experiment 2, three groups of 9 subjects received either 30 or 15 mg MSH/ACTH4-10 or a placebo. Reflexes, heart rate and heart rate variability were recorded. Rest-task differences of reflexes and heart rate were enhanced by the drug. We hypothesized that MSH/ACTH4-10 intensified the arousal effect of the task.

Adolescent↗

Deep tendon reflexes, magnesium, and calcium: assessments and implications.

The perinatal nurse, in collaboration with physicians, can use deep tendon reflexes as a powerful tool in determining the need to start, adjust, or stop magnesium infusion. Toxicity can be detected using physical manifestations as a guide. Clinical signs may be a better indicator than serum levels of tissue levels of magnesium. Whether magnesium is given to prevent seizures or for tocolysis, patients in both situations are at risk for developing toxicity and must be assessed regularly to ensure patient safety.

Female↗