Re: New Members, Hello! Stiff Person Syndrome

[Guest guest]

Hi ,

I happened to watch the original 20/20 broadcast and mentioned Kristie to this group, thinking that LDN might help her. I hope that she is able to be weaned off of her pain medications so that she may start the LDN soon. I did some research on SPS and found that it is associated with a few other disorders, most of them being autoimmune, which LDN really helps.

There are a few references to celiac disease with stiff person syndrome. Gluten ataxia is a well documented disorder that produces similar symptoms as stiff person syndrome. There are also some instances of ataxia and neurological problems being caused by B-12 deficiency or pernicious anemia.

Alternative Names: Moersch-Woltmann Syndrome, Stiff Person Syndrome or SPS.Stiff Man Syndrome is a neuromuscular condition in which a hyperactive startle reflex results in the contraction of the muscles, thus causing violent spasms. These spasms are capable of slamming the victim into walls and furniture. The disorder's cause is unknown, although evidence is pointing increasingly to the fact that it is an autoimmune disorder. Stiff person syndrome is a rare progressive neurological disorder. It is rather unique among neurologic diagnoses because of its lack of significant similarity to any other neurologic disease. Although rare, once observed it is quite unforgettable. Possibly the closest related disease is tetanus because both conditions affect peripheral inhibition via central mechanisms and both conditions inhibit central gamma-aminobutyric acid (GABA) systems.Although they appear completely normal, those afflicted with Stiff Man Syndrome must avoid any situation where they might be exposed to sudden sounds or stimulation. Often, they remain isolated in their home and excluded from normal living - orphaned from society by this rare and ruthless disorder.One variation of the disease known as stiff limb syndrome is observed more frequently in patients with diabetes mellitus. In this variation, the axial involvement is less marked, and one or (rarely) more extremities are affected.Associated diseases:

Diabetes mellitus: Although different epitopes for the GAD antibodies in diabetes have been identified, stiff person syndrome and type 2 diabetes have demonstrated comorbidity. This comorbidity occurs in association with a finding of positive GAD antibodies. Early distal involvement and involvement of a single limb is more frequent in patients with diabetes mellitus. Stiff person syndrome has also been associated with diabetes mellitus and ICA 105 pancreatic autoantigen with and without the presence of anti-GAD antibodies. Thyroiditis: An association with thyroiditis has been described. This may be due to comorbidity of multiple autoimmune entities or may be a more direct association. At least one group has suggested a link due to neuromuscular hyperactivity. Breast cancer: A variant of stiff person syndrome occurs rarely in patients with breast cancer. The antibodies involved are to a synaptic protein, amphiphysin. Anti-GAD antibodies are absent. Epilepsy: Anti-GAD antibodies have been described in patients with resistant focal epilepsies. In one series, 4 of 19 patients with anti-GAD-positive stiff person syndrome were also found to have localization-related epilepsy. Cerebellar ataxia: A number of case studies report the presence of cerebellar ataxia (with or without stiff person syndrome) associated with anti-GAD antibodies.

Causes and Developments

Researchers theorize that stiff-person syndrome may be an autoimmune disorder. Other autoimmune disorders such as diabetes, pernicious anemia (a chronic, progressive blood disorder), and thyroiditis (inflammation of the thyroid gland) may occur more frequently in patients with stiff-person syndrome.

Signs and Symptoms

SPS is characterized by constant painful contractions and spasms of voluntary muscles, particularly the muscles of the back and upper legs.In general, increased muscle tension, which is more marked proximally than distally, is present. Less frequently, lower extremities are most affected. More rarely, upper and lower extremities are affected. In people with diabetes, one limb may be affected, sparing other muscle groups. In most if not all patients, opposing muscle groups are noted to be tense, and tonic contraction with long relaxation times may be noted following percussion of the muscle. In most patients, the neurologic examination findings are otherwise normal.Symptoms may occur gradually, spreading from the back and legs to involve the arms and neck. Symptoms may worsen when the affected individual is anxious or exposed to sudden motion or noise. Affected muscles may become twisted and contracted, resulting in bone fractures in the most severe cases.Individuals with stiff-person syndrome may have difficulty making sudden movements and may have a stiff-legged, unsteady gait. Sleep usually suppresses frequency of contractions. Stiffness may increase and patients may develop a hunched posture (kyphosis) or a swayback (lordosis).Early stages:

Stiff person syndrome begins insidiously in the axial muscles, and, if the patient is referred at an early stage, little objective findings may be found at the initial presentation. In the initial stage of the disease, the patient has an exaggerated upright posture (classic "tin-soldier" appearance) and may report back discomfort or stiffness or pain in the entire back and sometimes neck, which is worse with tension or stress. Patients may report disturbed sleep because, although the stiffness is relieved with sleep, when the patient transitions from rapid eye movement (REM) to stage 1 or 2 sleep they may lose the relief from the spasms, which may awaken them. In some patients in the early stages, brief episodes of rather dramatic severe worsening that resolve spontaneously within hours or days may occur. Unfortunately, because of the subtle findings and apparent strong psychological components in the early stages, the patients are labeled as psychogenic, and effective treatment is often delayed.

Later stages:

Later in the disease, proximal limb muscles also begin to be involved, particularly when the patient is stimulated, startled, surprised, angered, upset, or frightened. This sort of stimulus may evoke painful, prolonged, severe spasms in the proximal arm and leg muscles that resolve slowly. The patient begins to move very slowly because rapid movement induces severe spasms. Even the distal extremities may become involved when moved rapidly. Not surprisingly, depression has been noted as a comorbidity at this stage. The patient's quality of life is affected severely at this point, making it difficult or impossible to drive, work, or have a satisfying social life.

End stages:

In the end stages of the disease, few muscles in the body are spared. Trismus is absent. However, facial and pharyngeal muscles may be affected markedly. Joint deformities may occur. Skeletal fractures and muscle ruptures may occur during spasms. Postsurgically, abdominal incisions are at risk of spontaneous rupture. Eating, simple movement, and other simple activities of daily living (ADLs) may be problematic.

Treatment and Prevention

Although there is no cure for stiff-person syndrome, the drug diazepam, which relaxes the muscles, provides improvement in most cases. Baclofen, phenytoin, clonidine, or tizanidine may provide additional benefit. Physical and rehabilitation therapy may also be needed.

Prognosis: Complications

The long-term prognosis for individuals with stiff-person syndrome is uncertain. Management of the disorder with drug therapy may provide significant improvements and relief of symptoms.Musculoskeletal complications are common, particularly in later stages of the disease. Joint deformity, joint dislocation, joint contracture, skeletal fracture, and muscle rupture have been reported.

http://www.diagnose-me.com/cond/C550180.html

A case of stiff-person syndrome, type 1 diabetes, celiac disease and dermatitis herpetiformis.

Antibodies against glutamic acid decarboxylase (GAD) are involved in the pathophysiology of stiff-person syndrome (SPS) and type 1 diabetes. GAD catalyses the conversion of glutamate to gamma-aminobutyric acid (GABA). GABA acts as a neurotransmitter between neurones, while in pancreatic beta cells it plays an integral role in normal insulin secretion, hence the clinical presentation of muscular spasms in SPS and insulin deficiency in diabetes. Despite this apparent major overlap in pathophysiology, SPS only rarely occurs in individuals with type 1 diabetes. We report the case of a 41-year-old man presenting with a simultaneous diagnosis of both these conditions. His case is unusual in that it is the first reported case in the literature of these conditions occurring in someone with celiac disease (CD) and dermatitis herpetiformis. We discuss why SPS and type 1 diabetes co-exist in only a minority of cases and speculate on the underlying mechanism of the association with CD and dermatitis herpetiformis in our patient.

PMID: 19150172 [PubMed - indexed for MEDLINE]

Stiff-person syndrome associated with cerebellar ataxia and high glutamic acid decarboxylase antibody titer.

First Department of Medicine, Hamamatsu University School of Medicine.

Glutamic acid decarboxylase (GAD) is the main target of humoral autoimmunity in patients with insulin-dependent diabetes mellitus (IDDM) and stiff-person syndrome. We reviewed the case of a 46-year-old woman who had cerebellar ataxia before getting stiff-person syndrome and IDDM with high anti-GAD autoantibody titers. This was a rare case in which there were both the clinical symptoms of stiff-person syndrome and cerebellar ataxia. In western blot analysis her serum reacted with 65-kDa proteins from rat cerebellum, cerebral cortex, and spinal cord. Autoantibodies to GAD may cause functional impairment of gamma-aminobutyric acid (GABA) neurons in the spinal cord as well as in the cerebellum.

PMID: 11579968 [PubMed - indexed for MEDLINE]

Vitamin B12 Deficiency

Vitamin B12 deficiency is characterized by megaloblastic anemia, fatigue, weakness, constipation, loss of appetite, and weight loss [1,3,27]. Neurological changes, such as numbness and tingling in the hands and feet, can also occur [5,28]. Additional symptoms of vitamin B12 deficiency include difficulty maintaining balance, depression, confusion, dementia, poor memory, and soreness of the mouth or tongue [29]. The neurological symptoms of vitamin B12 deficiency can occur without anemia, so early diagnosis and intervention is important to avoid irreversible damage [6]. During infancy, signs of a vitamin B12 deficiency include failure to thrive, movement disorders, developmental delays, and megaloblastic anemia [30]. Many of these symptoms are general and can result from a variety of medical conditions other than vitamin B12 deficiency.http://dietary-supplements.info.nih.gov/factsheets/vitaminb12.asp

Gluten Ataxia:

White Matter Lesions Suggestive of Amyotrophic Lateral Sclerosis Attributed to Celiac Disease.

Brown KJ, Jewells V, Herfarth H, Castillo M.

AJNR Am J Neuroradiol. 2009 Nov 12. [Epub ahead of print]PMID: 19910450 [PubMed - as supplied by publisher]Related articles

Copper deficiency myeloneuropathy due to occult celiac disease.

Goodman BP, Mistry DH, Pasha SF, Bosch PE.

Neurologist. 2009 Nov;15(6):355-6.PMID: 19901719 [PubMed - in process]Related articles

Neurological symptoms in patients with biopsy proven celiac disease.

Bürk K, Farecki ML, Lamprecht G, Roth G, Decker P, Weller M, Rammensee HG, Oertel W.

Mov Disord. 2009 Dec 15;24(16):2358-62.PMID: 19845007 [PubMed - in process]Related articles

CD8/perforin/granzyme B effector 9and inferior olives in gluten ataxia.

Mittelbronn M, Schittenhelm J, Bakos G, de Vos RA, Wehrmann M, Meyermann R, Bürk K.

Neuropathology. 2009 Jul 17. [Epub ahead of print]PMID: 19622110 [PubMed - as supplied by publisher]Related articles

Intravenous immunoglobulin therapy for autoantibody-positive cerebellar ataxia.

Nanri K, Okita M, Takeguchi M, Taguchi T, Ishiko T, Saito H, Otsuka T, Mitoma H, Koizumi K.

Intern Med. 2009;48(10):783-90. Epub 2009 May 15.PMID: 19443972 [PubMed - indexed for MEDLINE]Related articlesFree article

The gluten syndrome: a neurological disease.

Ford RP.

Med Hypotheses. 2009 Sep;73(3):438-40. Epub 2009 Apr 29.PMID: 19406584 [PubMed - indexed for MEDLINE]Related articles

..

[A case of anti-gliadin-antibody-positive cerebellar ataxia effectively treated with intravenous immunoglobulin in which voxel-based morphometry and FineSRT were diagnostically useful]

Nanri K, Otsuka T, Takeguchi M, Taguchi T, Ishiko T, Mitoma H, Koizumi K.

Rinsho Shinkeigaku. 2009 Jan;49(1):37-42. Japanese. PMID: 19227895 [PubMed - indexed for MEDLINE]Related articles

Effect of intravenous immunoglobulin on cerebellar ataxia and neuropathic pain associated with celiac disease.

Souayah N, Chin RL, Brannagan TH, Latov N, Green PH, Kokoszka A, Sander HW.

Eur J Neurol. 2008 Dec;15(12):1300-3.PMID: 19049545 [PubMed - indexed for MEDLINE]Related articles

Neurological disorders in adult celiac disease.

Freeman HJ.

Can J Gastroenterol. 2008 Nov;22(11):909-11. Review.PMID: 19018335 [PubMed - indexed for MEDLINE]Related articlesFree article

[Neurological and psychiatric aspects of some gastrointestinal diseases]

Aszalós Z.

Orv Hetil. 2008 Nov 2;149(44):2079-86. Review. Hungarian. PMID: 18952527 [PubMed - indexed for MEDLINE]Related articles

Autoantibodies in gluten ataxia recognize a novel neuronal transglutaminase.

Hadjivassiliou M, Aeschlimann P, Strigun A, DS, Woodroofe N, Aeschlimann D.

Ann Neurol. 2008 Sep;64(3):332-43.PMID: 18825674 [PubMed - indexed for MEDLINE]Related articles

Gluten ataxia.

Hadjivassiliou M, DS, Woodroofe N, on C, Grünewald RA.

Cerebellum. 2008;7(3):494-8. Review.

http://www.jds-jgp.net/SPS_Article_Yale_SMD_of_Neurology_by_Dr_Novella.pdf

Good luck,

Nola Chris

In a message dated 12/31/2009 9:57:37 P.M. Central Standard Time, bsixstring@... writes:

Hi, my name is and my fiance is Kristie. She is suffering from some rare neuromuscular autoimmune disease/s. She was originally diagnosed with Stiff person syndrome but we have been at the Cleveland clinic for over five months now with still no answers. They don't think she has SPS. We are still lost. Our plan is going to UCSF medical center anywhere from 2-4 weeks to see a neurologist specializing in "rare and hard to diagnose diseases". I want to keep this first post small and just want to introduce ourselves. Wishing you all a Happy New Year!Sincerely,