Stiff Person Syndrome

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Definition

Stiff person syndrome (SPS) is a rare acquired neurological disorder characterized by fluctuating muscle rigidity and stiffness, painful spasms, and continuous motor unit activity (1, 2, 3). This condition was originally described as “stiff man syndrome” (SMS) by Moersch and Woltman in 1956. They reported observations from 14 cases of patients who experienced progressive stiffness, episodic painful muscle spasms, and difficulty walking without any other neurological signs (4). The rigidity and continuous motor unit activity is most pronounced in muscles of the trunk (thoracolumbar paraspinals and rectus abdominis), but may also occur in the legs and arms, and persists even when relaxation is attempted (3).

SPS includes the following variants: classical SPS, focal SMS, Stiff Leg Syndrome (SLS), jerking SMS, progressive encephalomyelitis with rigidity and myoclonus (PERM) paraneoplastic SMS, gait ataxia, dysarthria, and abnormal eye movements (1, 3).

Etiology / Epidemiology

The exact etiology of SPS remains unclear, however it is widely accepted as an autoimmune disease (1, 2, 3, 4). The majority of SPS cases contain the glutamic acid decarboxylase (GAD) autoantibody. GAD is a GABA synthesizing enzyme, with two primary isoforms: GAD-65 and GAD-67 (1, 2). GAD-65 is primarily associated with SPS; it is also associated with diabetes mellitus, cerebellar ataxia, and limbic encephalitis (1). When GAD is inhibited by the anti-GAD in SPS, GABA becomes less readily available, thus reducing GABA’s inhibitory effect. This process leads to continuous stimulation of muscles by motor neurons, resulting in muscle rigidity (1, 3).

SPS is a very rare disease, prevalent in 1-2 in a million (1, 2). It is mostly reported in women, with 2 women affected per every one man (1, 5). SPS usually manifests later in life; the patient typically presents with initial symptoms between 40-60 years of age, although onset has been reported in patients younger and older (1, 3, 5). Over half of SPS patients have, or will develop, diabetes at some point. SPS is also related to thyroid disease and vitiligo (5).

Clinical Presentation

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Diagnostic Procedures

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Outcome Measures

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Physical Therapy Management

It is important to note that physical therapy could worsen symptoms of SPS during certain phases of the disease, the efficacy of physical therapy is highly variable, and certain precautions should be taken before proceeding with treatments.

Scott Newsome, DO, Department of Neurology at Johns Hopkins Medical (2015) recommends that physical therapy involve:

• Deep tissue myofacial techniques
  
• Ultrasound
  
• Passive range of motion (any type of contractile exercise can reproduce or worsen symptoms), and
  
• Heat therapy or possibly hydrotherapy because any type of cold therapy can exacerbate symptoms
  
  

Ultimately, physical therapy should be tailored to the individual with SPS are people present differently with the disease. It is important to comply with patient goals, understand symptom triggers, and help in the best way possible to reduce pain, therefore increasing the quality of life in those living with SPS.

Differential Diagnosis

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Key Evidence

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Resources

Rare Disease Report Website - SPS Videos
http://www.raredr.com/search?get1=search&keywordTerm=stiff+person+syndrome

SPS - Canadian Stem Cell Foundation
http://stemcellfoundation.ca/en/tag/stiff-person-syndrome/

Clinical Trials for those with SPS
https://clinicaltrials.gov/search/term=Stiff-Person%20Syndrome

Physical Therapy Research

One of the more notable case studies to be published about SPS and physical therapy was by Kristen Potter in 2006. She found that inpatient rehabilitation twice daily for 30 minute sessions, and one 30 minute session on weekends focusing on exercise (stretching and relaxation) and functional retraining (transfers, stairs, sit to stand, etc.) improved range of motion, posture, and gait in a male patient with SPS, despite his continued spasms, pain, and stiffness.

Recently, in a case study by Christopher Hegyi (2011), found that physical therapy treatment including: ultrasound, soft tissue mobilization, passive stretching, education, and exercise were most beneficial for a 24 year old woman with stiff person syndrome. Over the course of 15 weeks (one treatment per week) the woman’s spasms and stiffness had significantly reduced, near the end of treatment she could achieve full range of motion and flexibility, however these achievements were only seen seated or lying down. Since her symptoms were worse when standing, they issued an ankle foot orthosis (AFO) which greatly improved her gait by allowing her foot to be placed flat on the floor.

References

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