Stiff person syndrome

As Stiff - man syndrome (SMS ) or Stiff - person syndrome ( SPS) is called a rare neurological disorder that is characterized by a generalized increase in tone of the muscles. It is an autoimmune disease that can occur spontaneously or as a paraneoplastic syndrome.

Symptoms

Characteristic of the SMS is a growing up years months increased tone of the muscles; also occur in the affected muscles spontaneously or triggered convulsions. Usually, the back and hip muscles are symmetrically affected. While in some patients the tone of the muscles is only slightly increased, in others the back stiffness is so pronounced that it restricts trunk flexion. Also, an increase in the lumbar lordosis is a result of increased tension in the back muscles. The symptoms can fluctuate especially at the beginning, in the course of the rigidity is often permanently present. The response can be slowed down by the involuntary increased tension of the hip and leg muscles and appear cautious and clumsy. The spasms can by external and internal stimuli (eg, touch, movement, sudden noises, anger, fear ) are triggered and often affect - even after unilateral stimulation - both halves of the body. The cramps typically begin with a brief involuntary muscle contractions ( myoclonus ), onto which the persistent ( tonic ) and painful contraction of the muscle follows.

Variants of Stiff-Man Syndrome

The SMS is a syndrome of a further comprehensive clinical spectrum, which also includes the focal SMS (also called Stiff - limb syndrome, or Stiff - leg syndrome (SLS ) ), the progressive encephalomyelitis with rigidity and myoclonus ( PERM ) and the paraneoplastic SMS Act. The variants of the SMS differ mainly in terms of the affected muscles and the presence of other pathological neurological findings. The paraneoplastic SMS is - unlike the other variants - a cancer is based. A SLS can pass over into a text message, from this, in turn, can develop even years after a PERM.

Diagnosis

The diagnosis is based on medical history, clinical neurological examination, electromyography and the medical laboratory detection of antibodies against the body's own proteins ( autoantibodies).

Electromyography there is a continuous activity of motor units. It is the reason for the increased tone of 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.

Medical laboratory serologically at 60-90 % of patients with antibodies to the enzyme glutamic acid decarboxylase SMS (English glutamic acid decarboxylase, GAD) found. This enzyme is responsible for the synthesis of the neurotransmitter γ -aminobutyric acid ( GABA) in nerve cells required. Autoantibodies against GAD are not only in front of SMS, but also in other diseases such as the immune-mediated type 1 diabetes. In patients with paraneoplastic SMS antibodies against the protein can be found Amphiphysin. Amphiphysin antibodies also occur in other paraneoplastic diseases such as paraneoplastic encephalomyelitis (PEM ). The benefits of antibody titers in serum and cerebrospinal fluid as a marker for disease progression remains questionable.

Therapy

The oriented therapy on disease mechanism has two main starting points. On the one hand it is attempted to increase the GABA - dependent inhibition in the central nervous system. For this purpose, benzodiazepines and baclofen can be used. On the other via a suppression of the immune system (immunosuppression ) of the suspected autoimmune process that will be cut. Therapeutic interventions of this type include the administration of intravenous immunoglobulins, plasmapheresis, administration of methylprednisolone and rituximab. If are antibodies against amphiphysin proteins in serum and CSF are not found, search for a causative underlying malignancy (usually there is a breast cancer or lung cancer before ). If a tumor is found, it shall be treated in accordance with oncological guidelines.

History of Medicine

For the first time we find the term " stiff -man syndrome" at the neurologist F. Moersch and Woltman H. with " progressive fluctuating muscular rigidity and spasms " reported 1956 on 14 cases. 1988 discovered the work group to M. Solimena as first antibody against the enzyme Glutamatdecarboxlase in serum and cerebrospinal fluid of a patient with SMS.

Organizations

The Stiff - person syndrome self-help Germany eV is committed to people who are affected by this very rare disease and offers support and information. It is a nationwide association and was founded in 1998 by some stakeholders. Today, the self-help group includes much more affected by the disease members who come from all over Germany. Since October 2010, the Stiff - person syndrome self-help Germany eV is a member of the AXIS, an alliance of rare chronic diseases.