Stiff-man syndrome

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Classification according to ICD-10
G25.8 Other specified extrapyramidal and movement disorders
Stiff-man syndrome [rigid muscle syndrome]
ICD-10 online (WHO version 2019)

As stiff-man syndrome (SMS) or unisex Stiff-person syndrome (SPS) is a rare neurological called disease caused by a generalized increase in tone of the muscles is marked. It is an autoimmune disease that can occur spontaneously or as a paraneoplastic syndrome . According to estimates, the number of people suffering from SMS in Germany is around 300. Of these, around two thirds are women and one third are men.

Symptoms

A characteristic of SMS is an increase in the tone of the muscles that increases over months to years; In addition, spasms occur spontaneously or when triggered in the affected muscles. The back and hip muscles are usually affected symmetrically. While the tone of the muscles is only slightly increased in some patients, in others the back stiffness is so pronounced that it restricts trunk flexion. A strengthening of the lumbar lordosis is also a consequence of the increased tension in the back muscles. The symptoms can fluctuate, especially at the beginning, but the stiffness is often permanent over time. The gait can be slowed down by the involuntarily increased tension in the hip and leg muscles and appear cautious and clumsy. The cramps can be triggered by external and internal stimuli (e.g. touch, movement, sudden loud noises). They typically begin with a brief involuntary muscle contraction ( myoclonus ), which is then followed by a sustained (tonic) and painful contraction of the muscle. But there can also be a short-term loss of muscle tone ( cataplexy ) caused by emotions (joy, laughter, enthusiasm, anger, excitement ). Usually both halves of the body are affected.

Variants of Stiff-Man Syndrome

SMS forms a syndrome from a broader clinical spectrum, including focal SMS (also called stiff limb syndrome or stiff leg syndrome ( SLS )), progressive encephalomyelitis with rigidity and myoclonus (PERM) and paraneoplastic SMS are attributable. The variants of SMS differ mainly with regard to the muscles involved and the presence of other pathological neurological findings. In the course of the process, an SLS can turn into an SMS, which in turn can develop into a PERM even after years.

diagnosis

The diagnosis is based on the anamnesis , the clinical-neurological examination, the electromyographic examination and the laboratory medical evidence of antibodies against the body's own proteins ( autoantibodies ).

Electromyography shows a continuous activity of motor units . It is the reason for the increased tone of the muscles and is also detectable when the patient tries to relax completely. In contrast, the continuous activity during sleep, during spinal anesthesia and during anesthesia is less pronounced.

Laboratory Medicine of patients with antibodies to the SMS are serologically at 60-90% enzyme glutamate decarboxylase ( english glutamic acid decarboxylase , GAD ) found. This enzyme is necessary for the synthesis of the neurotransmitter γ-aminobutyric acid (GABA) in nerve cells. However, autoantibodies against GAD are not only found in SMS, but also in other diseases such as type 1 diabetes, which is mediated by the immune system . Antibodies to the protein amphiphysin can be found in patients with paraneoplastic SMS . Amphiphysin antibodies are also found in other paraneoplastic diseases such as paraneoplastic encephalomyelitis (PEM). The usefulness of determining antibody titers in serum and liquor as a marker for the course of the disease is questionable.

therapy

Therapy, which is oriented towards the disease mechanism, has essentially two starting points. On the one hand, attempts are being made to increase the GABA-dependent inhibition in the central nervous system . This can benzodiazepines and baclofen are used. On the other hand, the supposed autoimmune process is supposed to be weakened by suppressing the immune system ( immunosuppression ). Therapeutic measures of this type include the administration of intravenous immunoglobulins, plasmapheresis , the administration of methylprednisolone and therapy with rituximab . If antibodies to amphiphysin proteins are found in serum and CSF, a causal underlying tumor disease must be found (usually breast cancer or bronchial cancer ). If a tumor is found, it should be treated according to oncological guidelines.

Medical history

The term “stiff-man syndrome” was first used by the neurologists F. Moersch and H. Woltman, who in 1956 reported on 14 cases with “progressive fluctuating muscle stiffness and cramps”. In 1988, M. Solimena’s group was the first to discover antibodies against the enzyme glutamate decarboxylase in the serum and liquor of a patient with SMS.

Organizations

The Stiff-Person Vereinigung Deutschland eV is committed to people who are affected by this disease and offers help and information. This self-help facility was founded in 1998 by some of those affected. Today (2018) the Stiff-Person Association has around 130 members who come from all over Germany and abroad. Since October 2010 the Stiff-Person Vereinigung Deutschland eV has been a member of ACHSE, the Alliance for Rare Chronic Diseases.

literature

  • HM Meinck, B. Balint: From the stiff-man syndrome to the stiff-person spectrum diseases. In: Nervenarzt 2018; 89 (2), pp. 207-218. DOI 10.1007 / s00115-017-0480-2
  • B. Balint, HM Meinck: Pragmatic Treatment of Stiff Person. In: Mov. Disord. Clin. Pract. 2018; 5 (4), pp. 394-401. DOI 10.1002 / mdc3.12629
  • HM Meinck, PD Thompson: Stiff man syndrome and related conditions. In: Mov Disord. 2002 Sep; 17 (5), pp. 853-866. PMID 12360534
  • AJ Espay, R. Chen: Rigidity and spasms from autoimmune encephalomyelopathies: stiff-person syndrome. In: Muscle Nerve. 2006 Dec; 34 (6), pp. 677-690. PMID 16969837

Web links

Individual evidence

  1. Rakocevic et al.: Anti-glutamic acid decarboxylase antibodies in the serum and cerebrospinal fluid of patients with stiff-person syndrome: correlation with clinical severity. Arch Neurol . 2004; 61 (6), pp. 902-904. PMID 15210528 full text
  2. ^ FP Moersch, HW Woltman: Progressive fluctuating muscular rigidity and spasm ("stiff-man" syndrome); report of a case and some observations in 13 other cases. In: Proc Staff Meet Mayo Clin. 1956 Jul 25; 31 (15), pp. 421-427. PMID 13350379
  3. M. Solimena et al: Autoantibodies to glutamic acid decarboxylase in a patient with stiff-man syndrome, epilepsy, and type I diabetes mellitus. In: N Engl J Med . 1988 Apr 21; 318 (16), pp. 1012-1020. PMID 3281011 .