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

Familial hyperekplexia, also called startle disease, is a rare neurological disorder characterized by excessive startle responses to noise or touch. It can be associated with serious injury from frequent falls, apnea spells, and aspiration pneumonia. Familial hyperekplexia has a heterogeneous genetic background with several identified causative genes; it demonstrates both dominant and recessive inheritance in the α1 subunit of the glycine receptor (GLRA1), the β subunit of the glycine receptor and the presynaptic sodium and chloride-dependent glycine transporter 2 genes. Clonazepam is an effective medical treatment for hyperekplexia. Here, we report genetically confirmed familial hyperekplexia patients presenting early adult cautious gait. Additionally, we review clinical features, mode of inheritance, ethnicity and the types and locations of mutations of previously reported hyperekplexia cases with a GLRA1 gene mutation.
Accidental Falls ; Adult ; Apnea ; Clonazepam ; Gait* ; Genetic Background ; Glycine Plasma Membrane Transport Proteins ; Humans ; Nervous System Diseases ; Noise ; Phenotype* ; Pneumonia, Aspiration ; Receptors, Glycine ; Reflex, Startle ; Sodium ; Stiff-Person Syndrome* ; Wills

Autoimmune encephalitis causes subacute deficits of memory and cognition, often followed by suppressed level of consciousness or coma. A careful history and examination may show early clues to particular autoimmune causes, such as neuromyotonia, hyperekplexia, psychosis, dystonia, or the presence of particular tumors. Ancillary testing with MRI and EEG may be helpful for excluding other causes, managing seizures, and, rarely, for identifying characteristic findings. Appropriate autoantibody testing can confirm specific diagnoses, although this is often done in parallel with exclusion of infectious and other causes. Autoimmune encephalitis may be divided into several groups of diseases: those with pathogenic antibodies to cell surface proteins, those with antibodies to intracellular synaptic proteins, T-cell diseases associated with antibodies to intracellular antigens, and those associated with other autoimmune disorders. Many forms of autoimmune encephalitis are paraneoplastic, and each of these conveys a distinct risk profile for various tumors. Tumor screening and, if necessary, treatment is essential to proper management. Most forms of autoimmune encephalitis respond to immune therapies, although powerful immune suppression for weeks or months may be needed in difficult cases. Autoimmune encephalitis may relapse, so follow-up care is important.
Anti-N-Methyl-D-Aspartate Receptor Encephalitis ; Antibodies ; Cognition ; Coma ; Consciousness ; Diagnosis* ; Dystonia ; Electroencephalography ; Encephalitis* ; Follow-Up Studies ; Isaacs Syndrome ; Magnetic Resonance Imaging ; Mass Screening ; Membrane Proteins ; Memory ; Psychotic Disorders ; Recurrence ; Seizures ; Stiff-Person Syndrome ; T-Lymphocytes

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

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

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

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

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