Stiff person syndrome
Stiff person syndrome, previously known as stiff man syndrome, was first described in 1956 by Moersch and Woltman of Mayo Clinic 1 and is a very rare neuromuscular disease characterized by:
- progressive muscle stiffness of the spine and lower extremities
- muscle spasms triggered by external stimuli or emotional stress
- symptoms typically relieved by benzodiazepines
Onset is usually between 30 and 50 years of age, and diagnosis is made usually with EMG and anti-GAD (glutamic acid decarboxylase) antibodies only present in 60% of patients, but which are very specific.
It appears to be predominantly autoimmune in nature. The current hypothesis is that stiff-man syndrome occurs due to increase in oligoclonal bands in CSF of patients which destroyed GABAergic nerve cells 2, 3.
It is seen as one of the manifestations of a number of autoimmune encephalitides (e.g. anti-GAB antibodies).
- type 1 diabetes
Imaging is only really needed to exclude other unrelated pathology.
Treatment and prognosis
In addition to benzodiazepines, Baclofen has been used for treatment. More recently intravenous immunoglobulins (IVIG) have been used in combination with other drugs 4.
- 1. MOERSCH FP, WOLTMAN HW. Progressive fluctuating muscular rigidity and spasm ("stiff-man" syndrome); report of a case and some observations in 13 other cases. Proc Staff Meet Mayo Clin. 2003;31 (15): 421-7. Pubmed citation
- 2. Solimena M, Folli F, Denis-Donini S et-al. Autoantibodies to glutamic acid decarboxylase in a patient with stiff-man syndrome, epilepsy, and type I diabetes mellitus. N. Engl. J. Med. 1988;318 (16): 1012-20. doi:10.1056/NEJM198804213181602 - Pubmed citation
- 3. Karlson EW, Sudarsky L, Ruderman E et-al. Treatment of stiff-man syndrome with intravenous immune globulin. Arthritis Rheum. 1994;37 (6): 915-8. Pubmed citation