Acupuncture Therapy ; Adult ; Humans ; Male ; Stiff-Person Syndrome ; therapy

Hyperekplexia or startle disease is a hereditary neurological disorder characterized by an abnormally exaggerated startle response to tactile, auditory and visual stimuli, together with a global muscular hypertonia and hyperactive tendon reflexes. This disease is a rare, genetically determined disorder, with an autosomal dominant inheritance with variable expression, first described by Suhren, et al. We report two cases of familial hyperekplexia, who developed hypertonia and pathologic startle response to tactile stimulation in the immediate neonatal period. The infant showed a marked improvement of the startle response and muscular hypertonia with low-dose clobazam.
Humans ; Infant ; Nervous System Diseases ; Reflex, Stretch ; Stiff-Person Syndrome* ; Twins* ; Wills

Stiff-man syndrome is a rare disorder characterized by intermittent spasms and stiffness of the axial and limb muscles, associated with an electromyographic pattern of continuous motor unit activity in affected muscles. The cause of this disorder is unknown, but it has been associated with autoimmune disease and with endocrine disorder. We present a 49 year old female patient with clinical and electrophysiologic features of stiff-man syndrome and postoperative panhypopituitarism, whose muscle stiffness and spasm resolved with diazepam, clonazepam and prednisolonereplacement therapy.
Autoimmune Diseases ; Clonazepam ; Diazepam ; Extremities ; Female ; Humans ; Middle Aged ; Muscles ; Spasm ; Stiff-Person Syndrome*

The results of neurophysiological studies in a 20 year-old man who had pathological jumps and falls following unexpected auditory stimuli is presented. He also had action induced hemidystonia and polymyoclonus involving fingers of the both hands. Somatosensory evoked potential study showed no giant cortical wave and jerk-locked back averaging electroencephalogram showed no jerk ,related cortical event. Polymyographic study after auditory stimuli showed electromyographic (EMG) bursts recruitment pattern consistent with hyprekplexia ai)d reticular reflex myocloniis. EMG bursts spread rostrally and caudally from the sternocleidomastoid muscle via a slowly conducting neuronal pathways. These findings are compatible. With hyperekplexia. Pathologically increased gain of the brainstem reticular formation seems to cause hyperekplexia.
Brain Stem ; Electroencephalography ; Evoked Potentials, Somatosensory ; Fingers ; Hand ; Humans ; Myoclonus ; Neurons ; Reflex ; Reticular Formation ; Stiff-Person Syndrome* ; Young Adult

Stiff man syndrome is a rare neurological condition characterized by progressive muscle stiffness and rigidity, painful spasm of axial and limb muscles with impairment of walking. Because its etiology is still unclear, diagnosis is based on typical clinical manifestations. Benzodiazepines are known as effective drug for the treatment of symptoms. We report a case of 39-year-old female patient who has suffered from rigidity of trunk, back pain, gait disturbance and depressive mood for 18 months. She was diagnosed as stiff man syndrome and successfully treated with medications such as diazepam, clonidine, baclofen.
Adult ; Back Pain ; Baclofen ; Benzodiazepines ; Clonidine ; Diazepam ; Extremities ; Female ; Gait ; Humans ; Muscles ; Spasm ; Stiff-Person Syndrome ; Walking

Anesthesia ; methods ; Humans ; Male ; Middle Aged ; Muscle Hypotonia ; etiology ; Stiff-Person Syndrome ; complications ; physiopathology ; Thymoma ; surgery ; Thymus Neoplasms ; surgery

Stiff-person syndrome is a rare disorder, and the natural history of the syndrome has not been completely ascertained. The symptoms range from mild to severe and can progress over time: the final result can be significant disability. However, this syndrome is often misdiagnosed due to a lack of understanding of the clinical manifestations. We report the case of a patient who presented with slowly progressing gait disturbance and lower extremity pain and was later diagnosed as suffering from stiff-person syndrome. The patient experienced symptomatic improvement after the administration of benzodiazepines. No recurrence of symptoms has been reported. If the characteristic clinical features and electromyography findings of the syndrome are accurately interpreted, diagnosis of patients with abnormal muscle tension can be effectively done.
Autoantibodies ; Autoimmune Diseases ; Benzodiazepines ; Diagnosis ; Electromyography ; Gait ; Humans ; Leg ; Lower Extremity ; Muscle Tonus ; Natural History ; Recurrence ; Spasm ; Stiff-Person Syndrome

Stiff-person syndrome (SPS) is an unusual autoimmune neurological disease. We report a woman who developed stiff-person syndrome associated with thymoma. A 42-year-old woman visited a general hospital complaining of progressive rigidity in her neck and both lower legs. She also had other symptoms including whole body pruritus, dysphargia, dysarthria, diplopia, and a visual hallucination-like symptom. Emotional distress preceded her symptoms. After a extensive neurologic workup, she was transferred from the neurologic ward to the psychiatric ward under the impression of conversion or somatoform disorder. During her psychiatric admission, we found a prolonged involuntary MUAP discharge on her electromyograph, and positive anti-GAD and anti-GQ1b antibodies. In addition, a chest CT scan revealed a thymic epithelial tumor. We report a case of stiff-person syndrome presenting multiple unexplained somatic symptoms, which was initially diagnosed as a conversion or somatoform disorder.
Adult ; Antibodies ; Conversion Disorder ; Diplopia ; Dysarthria ; Female ; Hospitals, General ; Humans ; Leg ; Neck ; Neoplasms, Glandular and Epithelial ; Pruritus ; Somatoform Disorders ; Stiff-Person Syndrome ; Thorax ; Thymoma ; Thymus Neoplasms

BACKGROUND: Tetanus toxin selectively blocks inhibitory synapses in the brainstem as well as the spinal cord. Therefore, in contradiction to Stiff Person syndrome, patients with generalized tetanus usually show abnormal masseter silent periods as well as abnormal F/M amplitude or H/M amplitude ratios. This study aimed to verify the characteristics of electrophysiological findings of generalized tetanus. METHODS: The authors retrospectively studied clinical and electrophysiological characteristics of 7 patients with generalized tetanus, who were admitted to the neurology department of Hallym Medical Center from 1995 to 2005. RESULTS: All the seven patients showed abnormal masseter silent periods. Three of them showed somewhat improvement in the silent period at follow-up study as trismus was improving. Full NCSs done in two patients did not show any abnormalities except an increased F/M amplitude ratio. One patient with a wound site in his left finger showed an abnormal F/M amplitude ratio only in the right upper extremity without involvement of other extremities. Another patient showed an increased H/M amplitude ratio without an increased F/M amplitude ratio. (In this patient we did not conduct full NCS tests.) CONCLUSIONS: The Masseter silent period could be used as a diagnostic tool and parameter of clinical improvement in patients with generalized tetanus.
Brain Stem ; Extremities ; Fingers ; Follow-Up Studies ; H-Reflex ; Humans ; Neurology ; Retrospective Studies ; Spinal Cord ; Stiff-Person Syndrome ; Synapses ; Tetanus Toxin ; Tetanus* ; Trismus ; Upper Extremity ; Wounds and Injuries

The stiff-man syndrome is a rare and disabling disorder, characterized by muscle rigidity with superimposed painful spasms involving axial and limb musculature. The clinical symptoms are continuous contraction of agonist and antagonist muscles caused by involuntary motor-unit firing at rest and spasms precipitated by tactile stimuli, passive stretch, volitional movement of muscles, startling noises and emotional stimuli. The cause of stiff-man syndrome is unknown but an autoimmune pathogenesis is suspected. The presence of antibodies against glutamic acid decarboxylase, the asso-ciation of the disease with other autoimmune disorders, and the presence of various autoantibodies contribute to the assumption. The stiff-man syndrome is clinically elusive, but potentially treatable and should be considered in patients with unexplained stiffness and spasms. Drugs that enhance GABA neurotransmission, such as diazepam and baclofen, provide modest relief of clinical symptoms. We described three patients with clinical and electrophysiologic feature of stiff-man syndrome.
Antibodies ; Autoantibodies ; Baclofen ; Diazepam ; Extremities ; Fires ; gamma-Aminobutyric Acid ; Glutamate Decarboxylase ; Humans ; Muscle Rigidity ; Muscles ; Noise ; Spasm ; Stiff-Person Syndrome* ; Synaptic Transmission