Stiff Leg Syndrome Research Articles

Stiff-Leg Syndrome Associated with Autoimmune Retinopathy and Its Treatment with IVIg-A Case Report and Review of the Literature.

Antibodies to glutamic acid decarboxylase (GAD) have been predominantly associated with stiff-person syndrome (SPS), which is often accompanied by organ-specific autoimmune diseases, such as late-onset type 1 diabetes. Autoimmune retinal pathology in SPS has recently been suggested to coexist in patients suffering from this disease; however, evidence reporting potential treatment options for the neurological and visual symptoms these patients experience remains scarce. We provide a review of the relevant literature, presenting a rare case of a middle-aged woman with autoimmune retinopathy (AIR) followed by stiff-leg syndrome who responded to intravenous immune globulin treatment (IVIg). Our report adds to previously reported data supporting the efficacy of IVIg in SPS spectrum disorders while also proposing the potential effect of IVIg in treating SPS spectrum patients with coexisting AIR.

Association between Parkinsonian subtype Multiple System Atrophy and Anti-Glutamic Acid Decarboxylase antibodies in Stiff Person Spectrum Disorder (SPSD). Case Report

Objectives: Patients with Anti-Glutamic Acid Decarboxylase antibodies (Anti-GAD) have low levels of GABA synthesis which can manifest as motor and cognitive dysfunction such as Stiff-Person Syndrome and variants, stiff-leg syndrome, insulin-dependent diabetes mellitus, cerebellar ataxia, limbic and extra-limbic encephalitis, progressive encephalopathy with limb rigidity (PERM), oculomotor dysfunction and drug-resistant epilepsy.

A Wolf in Sheep's Clothing: An "Alien Leg" in Corticobasal Syndrome.

BackgroundAlien limb phenomenon occurs in 50–60% of patients with corticobasal syndrome (CBS) and usually presents with an “alien hand” phenomenon. The “alien foot” presentation is rarer and may be misdiagnosed, as foot involvement can lead to erroneous localization of the clinical problem to the knee, hip, or back. Subsequently misdiagnoses such as myelopathy, radiculopathy, functional disorder, stiff leg syndrome, neuromyotonia, and painful leg moving toes syndrome may occur.Case reportWe describe two patients with alien foot symptoms that resulted in multiple opinions from different specialists, multiple diagnostic and therapeutic procedures, and delayed diagnosis. Eventually a diagnosis of CBS was made in both. Alien foot symptoms may be more common than initially thought and can result in a delayed diagnosis of CBS.ConclusionThe inclusion of this clinical finding in recently proposed diagnostic criteria highlights the need for increased clinical awareness.

Recent Advances and Review on Treatment of Stiff Person Syndrome in Adults and Pediatric Patients.

Stiff Person Syndrome (SPS) is one of the rarest autoimmune neurological disorders, which is mostly reported in women. It is characterised by fluctuating muscle rigidity and spasms. There are many variants of SPS, these include the classical SPS, Stiff Leg Syndrome (SLS), paraneoplastic variant, gait ataxia, dysarthria, and abnormal eye movements. Studies have shown that the paraneoplastic variant of SPS is more common in patients with breast cancer who harbour amphiphysin antibodies, followed by colon cancer, lung cancer, Hodgkin's disease, and malignant thymoma. Currently, the treatment for SPS revolves around improving the quality of life by reducing the symptoms as far as possible with the use of GABAergic agonists, such as diazepam or other benzodiazepines, steroids, plasmapheresis, and intravenous immunoglobulin (IVIG). There have been random clinical trials with Rituximab, but nothing concrete has been suggested. A treatment approach with standard drugs and cognitive behavioral therapy (CBT) seems to be promising.

An unusual cause of older adult falls: Stiff Leg Syndrome

Mr. B. was hospitalized for repeated falls and a painful syndrome of his right leg evolving since several weeks. The symptoms began with paroxysmal painful contractures in the lower back and in the right leg. Progressively, a hypertonia of the lower limb has settled, leading to falls, loss of independence and use of a rolling chair. On the clinical examination, we noticed a global contraction of the right leg, with an ankle in equinovarus and a quasi-irreducible flexion at 20 degrees of the knee. Muscle spasms were very painful, triggered by muscle contractions and by emotion. An electrophysiological study was performed. The needle electromyography objectived abnormal muscular activities at rest with a continue muscle activity on the right adductor, quadriceps, anterior tibialis and on muscles of the feet (Fig. 1). Motor and sensory nerve conduction variables, including: motor nerve conduction velocities, distal latencies and amplitudes were within normal. Analysis of the cerebro-spinal fluid was normal. On the immunological findings, anti-nuclear antibodies, anti-neutrophil cytoplasmic antibodies and onco-neural antibodies were negative. Glutamic Acid Decarboxylase antibodies (GAD) were positive at 111 U/ml (N: 0–1). The clinical examination, electrophysiological and immunological findings led to the diagnosis of a limited form of Stiff-man syndrome: a Stiff-leg syndrome.

Hyperexcitability restricted to the lower limb motor system in a patient with stiff-leg syndrome

We report a 29-year-old man who presented with a 2-year history of progressive stiffness and painful spasms limited to the bilateral lower limbs, exaggerated by auditory and tactile stimuli. His deep tendon reflexes were slightly increased in both lower extremities. His plantar response was flexor. His serum and cerebrospinal fluid were negative for anti-glutamic acid decarboxylase antibodies. Electromyography of antagonist muscle pairs in his distal lower limbs revealed a failure of reciprocal inhibition. We used transcranial magnetic stimulation with a paired-pulse paradigm, delivered to the cortical area of the upper and lower limbs, and revealed significantly enhanced facilitation only in the area of his lower limbs, but not that representing his upper limbs. His symptoms were improved substantially by 20 mg/day of oral diazepam. To our knowledge this is the first report of a patient with hyperexcitability limited to the lower limb motor system in a patient with stiff-leg syndrome.

Isolated hypertrophy of the tibialis anterior muscle in the stiff leg syndrome

Isolated hypertrophy of the tibialis anterior muscle in the stiff leg syndrome

MDP08 Stiff leg syndrome: first paediatric case report

MDP08 Stiff leg syndrome: first paediatric case report

Le syndrome de l’homme raide : formes cliniques, traitement et profil évolutif

Stiff-Man syndrome (SMS) is a rare neurological disease first described fifty years ago. There are several clinical forms, which are frequently misdiagnosed. The aim of this study is to review three of the main clinical forms. Case reports concerning three women suffering from different forms of SMS are presented, giving the main clinical features, their associations with other diseases, and the biological and electrophysiological findings. The first patient presented a symmetric axial muscle rigidity, painful spasms and contractions of the trunk and limbs associated with anti-GAD antibodies. The common form of SMS was diagnosed and the patient was improved by intravenous immunoglobulin (IVIg). The second patient suffered from contractions and spasms localized to the lower limbs. In this patient, anti-GAD antibodies were absent. The Stiff-Leg syndrome was diagnosed and the patient was improved by intrathecal baclofen. The third patient presented rigidity of limb and trunk muscles associated with signs of encephalitis. In this patient, only anti-amphiphysin antibodies were present. The progressive encephalomyelitis with rigidity was diagnosed and the patient was improved by IVIg associated with corticosteroid. Identifying patients with SMS makes it possible to propose appropriate medical management. There are several forms of the disease, and the severity of the evolution differs in each case. Treatment with GABA-ergic inhibitory drugs, IVIg and corticosteroid improve both the symptomatology and the quality of life of these patients.

Stiff man syndrome.

Stiff man syndrome (SMS), an uncommon neurological disease, is characterised by symmetrical muscle stiffness and spasms that often lead to skeletal deformity. Variants of the syndrome may involve one limb only (stiff leg syndrome), a variety of additional neurological symptoms and signs such as eye movement disturbances, ataxia, or Babinski signs (progressive encephalomyelitis with rigidity and myoclonus), or be associated with malignant disease (paraneoplastic SMS). Antineuronal autoimmunity and accompanying autoimmune diseases, most often insulin-dependent diabetes mellitus, are characteristic features of SMS and its variants. The condition is frequently misinterpreted as psychogenic movement disturbance, but electromyographic abnormalities and the presence of autoantibodies against glutamic acid decarboxylase (GAD) in both serum and cerebrospinal fluid help to establish the correct diagnosis. The aetiology of SMS is obscure. However, several features suggest that SMS is an autoimmune-mediated chronic encephalomyelitis. In line with this hypothesis, immunomodulation with a front-loaded methylprednisolone regimen reduces stiffness and spasms and improves other neurological symptoms in the majority of patients. Plasmapheresis or intravenous immunoglobulins are effective less frequently. For symptomatic treatment, the benzodiazepines are drugs of first choice. An alternative of last resort is baclofen administered intrathecally via an implanted pump device.

The clinical spectrum of anti-GAD antibody-positive patients with stiff-person syndrome.

To evaluate the clinical spectrum of anti-GAD-positive patients with stiff-person syndrome (SPS) and provide reproducible means of assessing stiffness. SPS can be difficult to diagnose. Delineation of the clinical spectrum in a well defined population will increase diagnostic sensitivity. In 20 anti-GAD-positive patients with SPS (six men, 14 women), screened among 38 referred patients, the authors assessed symptoms and signs, degree of disability, associated conditions, and immunogenetic markers. Degree of bending, distribution of stiff areas, timed activities, and magnitude of heightened sensitivity were examined monthly for 4 months in five patients. Average age at symptom onset was 41.2 years. Time to diagnosis was delayed from 1 to 18 years (mean 6.2). Stiffness with superimposed episodic spasms and co-contractures of the abdominal and thoracic paraspinal muscles were characteristic. All had stiff gait and palpable stiffness in the paraspinal muscles. Stiffness was asymmetric or prominent in one leg in 15 patients (stiff-leg syndrome) and involved facial muscles in 13. In one patient spasms lasted for days (status spasticus). Twelve patients needed a cane and seven a walker due to truncal stiffness and frequent falls (average three to four per month). Distribution of stiffness and degree of heightened sensitivity were two reproducible indices of stiffness and spasms. Autoimmune diseases or autoantibodies were noted in 80% and an association of with DRss(1) 0301 allele in 70%. SPS is 1) frequently misdiagnosed due to multifaceted presentations and asymmetric signs, 2) disabling if untreated, and 3) associated with other autoimmune conditions.

The cause of leg cramps and knee pains: an hypothesis and effective treatment

Cramps and pains of the lower extremities along with stiffness and pains in the knees are common complaints in the general population. Because the etiology and development of these disorders are poorly understood, treatment has been haphazard, for the most part unsuccessful, and occasionally dangerous. The diagnosis of “arthritis” is often incorrect; when osteoarthritis is present it is frequently not the cause of the pain. We name these maladies the “stiff leg syndrome” and hypothesise that they are caused by muscle and tendon shortening which came about as a direct result of modern civilisation; the popular practice of squatting close to the ground to defecate, cook and eat was replaced by a more “civilised” practice of sitting high on toilets and chairs. We discuss several simple stretching exercises which mimic the effects of squatting and frequently result in immediate and dramatic relief of symptoms.