Spinal cord stimulation for the symptomatic treatment of rigidity and painful spasm in a case of stiff person syndrome.

BACKGROUND: Stiff person syndrome (SPS) is a rare neuroimmunological disorder characterized by rigidity and painful spasm primarily affecting the truncal and paraspinal musculature due to autoimmune-mediated neuronal hyperexcitability. Spinal cord stimulation (SCS) is an approved therapy for managing painful neuropathic conditions, including diabetic peripheral neuropathy and refractory angina pectoris. We describe the novel use of SCS for the treatment of spasm and rigidity in a 49-year-old man with seropositive stiff person syndrome (SPS). The patient was treated with intravenous immunoglobulin (IVIG) and oral medications over a 13-month period with minimal improvement, prompting consideration of SCS. To our knowledge, this is the first report of the successful use of SCS in SPS with the demonstration of multifaceted clinical improvement. METHODS: Following a successful temporary SCS trial, permanent implantation was performed. Spasm/stiffness (Distribution of Stiffness Index; Heightened Sensitivity Scale; Penn Spasm Frequency Scale, PSFS), disability (Oswestry Disability Index, ODI; Pain Disability Index, PDI), depression (Patient Health Questionnaire-9, PHQ-9), sleep (Pittsburgh Sleep Quality Index, PSQI), fatigue (Fatigue Severity Scale, FSS), pain (Numerical Pain Rating Scale, NPRS), quality of life (EuroQoL 5 Dimension 5 Level, EQ-5D-5L), and medication usage were assessed at baseline, 6-month, and 10-month postimplantation. RESULTS: ODI, PHQ-9, FSS, NPRS, PSQI, and EQ-5D-5L scores showed a notable change from baseline and surpassed the defined minimal clinically important difference (MCID) at 6-month and 10-month follow-up. Oral medication dosages were reduced. CONCLUSIONS: The novel use of SCS therapy in seropositive SPS resulted in functional improvement and attenuation of symptoms. We present possible mechanisms by which SCS may produce clinical response in patients with SPS and aim to demonstrate proof-of-concept for a future comprehensive pilot study evaluating SCS-mediated response in SPS.

Severe Stiff-Person Syndrome After COVID: The First Video-Documented COVID Exacerbation and Viral Implications

OBJECTIVES: To describe a patient with mild GAD-positive stiff-leg syndrome (SLS) who developed severely disabling stiff-person syndrome (SPS) 1 week after mild COVID-19 and discuss the impact of viral implications. METHODS: Video-documented serial clinical observations at baseline, after acute COVID-19, and after IVIG treatments. RESULTS: A 39-year-old man with left-SLS was stable during a 2-year follow-up with low-dose antispasmodics, working fully and functioning normally, even able to run. One week after mild COVID-19, he started to experience generalized SPS symptomatology that steadily worsened the following 2-3 weeks, becoming unable to walk, requiring a walker, with significant thoracolumbar and bilateral leg stiffness and spasms. GAD ab were very high. After 3 monthly IVIg infusions he showed improvements, but his gait remains significantly stiff. All clinical changes, from baseline to post-Covid, and then post- IVIg have been video-documented. DISCUSSION: This is the first, clearly documented, severe GAD-positive SPS after COVID-19. Although viral or postviral causation can be incidental, the temporal connection with acute COVID-19, the severe disease worsening after symptom-onset, and the subsequent steady improvement after IVIg, suggest viral-triggered autoimmunity. Because COVID-19 reportedly can trigger or worsen GAD-associated diabetes type 1 through proinflammatory mediators, and SPS has been reportedly triggered by West Nile Virus, possibly through molecular mimicry, this case of acutely converting GAD-SLS to GAD-SPS suggest the need to explore viral etiologies in patients with GAD-SPS experiencing acute, long-lasting episodic exacerbations of stiffness and spasms.

Camptocormia in a young man with anti-GAD-seropositive stiff-person syndrome.

Stiff-person syndrome (SPS) usually manifests as an autoimmune neuromuscular disorder characterised by pronounced and advancing rigidity, primarily affecting the trunk and proximal muscles. There are various clinical subtypes like classic SPS (truncal stiffness, generalised rigidity and muscle spasms), partial SPS (stiff-limb syndrome) and uncommon forms including progressive encephalomyelitis with rigidity and myoclonus. Camptocormia, defined as forward flexion of the spine in the upright position that disappears in the supine position, without fixed deformity, has been described only in two cases as an initial presentation of Anti glutamic acid decarboxylase (GAD) autoimmunity. We encountered a young male presenting with a progressive forward-leaning posture and involuntary rhythmic movements in the lower limb. Diagnostic workup included MRI, blood routines, autoimmune screening, genetic testing, lumbar puncture and electromyography. Elevated serum anti-GAD antibody levels, inflammatory CSF and certain other clinical features supported the diagnosis of SPS. Treatment involved benzodiazepines, muscle relaxants and immunotherapy with intravenous immunoglobulin. This case underscores the importance of considering immune-mediated causes, such as SPS, in patients presenting with camptocormia.

Síndrome de la persona rígida / Stiff-man syndrome

El síndrome de la persona rígida es un trastorno neurológico infrecuente y desconcertante, caracterizado por contractura progresiva, rigidez y espasmos dolorosos que afectan la musculatura axial, lo que imposibilita la deambulación del paciente. Se presenta un paciente masculino de 22 años de edad con manifestaciones clínicas y electromiográficas compatibles con esta entidad nosológica. El tratamiento descrito para la enfermedad no produjo mejoría de los síntomas. Con respecto a los casos descritos en la literatura científica, es el primer paciente con diagnóstico de síndrome de la persona rígida que ha recibido una dosis de diazepam de 500 mg diarios por vía oral sin efectos adversos y una dosis en bolo de propofol de 800 mg para lograr la relajación muscular(AU)

Stiff-Man Syndrome is an uncommon and disturbing neurological disorder characterized by progressive contracture, stiffness and painful spasms that affect the axial musculature, making it impossible for the patient to walk around. We present a 22-year-old male patient with clinical and electromyographic manifestations compatible with this nosological disease. The treatment described for the disease did not produce an improvement in symptoms. Regarding the cases described in the scientific literature, this is the first patient diagnosed with Stiff-Man Syndrome who has received a dose of diazepam of 500 mg daily orally without adverse effects and a bolus dose of 800 mg of propofol to achieve muscle relaxation(AU)

"Stiff-Man syndrome"associada a poliendocrinopatia autoimune : relato de um caso / Stiff-man syndrome associated with autoimune polyndocrinopathy : report of a case

Os autores relatam o caso de uma paciente de 29 anos, parda, portadora de "stiff-man syndrome" (SMS) associada a poliendocrinopatia do tipo II (moléstia de Basedow-Graves, diabetes mellitus tipo I e tiroidite de Hashimoto). A primeira endocrinopatia foi a doença de Graves que surgiu aos 12 anos e entrou em remissao após um período de tratamento clínico. As manifestaçoes de SMS surgiram há 5 anos, com enrijecimento e espasmos dolorosos dos músculos axiais, e hipertrofia de deltóide e trapézio, tendo desenvolvido diabetes mellitus insulino-dependente (DMI) 2 anos após SMS. Há 1 ano apresentou também hipotiroidismo subclínico (tiroidite de Hashimoto). Foram detectados anticorpos anti-decarboxilase do ácido glutâmico (anti-GAD) no líquor e no soro da paciente, o que confirma o diagnóstico de SMS. Estes autoanticorpos estao voltados contra uma proteína de massa molecular 64 Kd (GAD) e têm sido detectados em 80 por cento dos pacientes com DMI. Pacientes com SMS apresentam alta prevalência desses autoanticorpos e uma grande associaçao com DMI. Na paciente descrita foi possível detectar autoanticorpos contra vários tecidos alvo (tiróide, pâncreas e neurônios GABA-érgicos). Neste relato discute-se os critérios diagnósticos, a fisiopatologia da SMS e os mecanismos imunológicos que levam ao DMI nesta síndrome.