STIFF PERSON SYDROME

DR MALLUM C.B.NEUROLOGY SR

LUTH

HISTORICAL PERSPECTIVE

• It was originally described by Moersch and Woltman in 1956 as stiff-man syndrome.

• The eponym for this syndrome is Moersch-Woltmann syndrome.

PATHOPHYSIOLOGY

• an imbalance between the spinal inhibitory (GABAnergic)

• input and the excitatory input to alpha motor neurons.

EPIDEMIOLOGY

• The onset is insidious• usually in middle life• Onset in adults is most frequent in the third to

fifth decades of life.• men and women are affected equally• No genetic predisposition is known.

CLINICAL FEATURES

• Usually, it begins in the axial muscles and extends to the proximal limb muscles

CLINICAL FEATURES

• At first the stiffness and spasms are intermittent;

• then, gradually they become more or less continuously active in the proximal limb and axial trunk muscles and increasingly painful.

• Muscles of respiration and swallowing and those of the face may be involved in the more advanced cases

CLINICAL FEATURES

• Any noise or other sensory stimulus or attempted passive or voluntary movement may precipitate severely painful spasms of all the involved musculature.

• The tendon reflexes are normal if they can be tested.

• Eye muscles are rarely affected.

• muscle spasms disappear during sleep, during general anesthesia, and with proximal nerve block.

Examination

• Patients may walk and sit with an exaggerated upright posture (classic "tin-soldier" appearance).

• Startle may lead to very uncomfortable and prolonged spasms

• Skeletal fractures and muscular rupture have been observed in late stages of disease

ASSOCIATED CONDITIONS

• Diabetes mellitus• Thyroiditis• Breast cancer• Epilepsy• Cerebellar ataxia

INVESTIGATIONS

• EMG - consists entirely of normal motor units, Myotonic potentials are absent . no evidence of distal motor nerve disturbance.

• Autoantibodies - glutamic acid decarboxylase (GAD), the

synthesizing enzyme for gamma-aminobutyric acid (GABA)

- Anti–pancreatic islet cell antibodies- Anti-amphiphysin antibodies

INVESTIGATIONS

• CSF -Oligoclonal bands can be observed in up to 50% of patients

• EEG – rarely associated with associated refractory partial epilepsy .

• Chest CT- associated thymoma• MRI or CT scanning of the brain is only

indicated if cortical or corticospinal tract signs are present

INVESTIGATIONS

• Hemoglobin A1C- DM• Complete blood count-• Thyroid-stImulating hormone- Thyroiditis

TREATMENT

• diazepam in doses of up to 50 to 250 mg/day• clonazepam,vigabatrin, or Intrathecal baclofen

therapy• plasma exchange,high-dose corticosteroids, or

intravenous gamma globulin

DIFFERENTIAL DIAGNOSIS

• Tetanus• Isaacs syndrome (Neuromyotonia )• subacute myoclonic spinal neuronitis• Dystonia - Axial torsion dystonia• dyskinesia • Rigidity• Hyperekplexia -Idiopathic or Hereditary• Schwartz-Jampel syndrome

tetanus Isaacs syndrome

subacute myoclonic spinal neuronitis

dystonia dyskinesia rigidity

disinhibition of interneurons (possibly viaGABA-nergic Renshaw cells) in the gray matter of the spinal cord.

nil disinhibition of interneurons (possibly viaGABA-nergic Renshaw cells) in the gray matter of the spinal cord.

nil nil nil

inhibit central gamma-aminobutyric acid (GABA) systems

VARIANTS OF STIFF PERSON SYNDROME

• Congenital Neonatal Rigidity-stiff-infant” syndrome or Stiff baby syndrome• paraneoplastic variety of stiff-man syndrome Gephyrin & amphiphysin are the auto antigens implicated.• “stiff-limb” syndrome-more frequently in

patients with diabetes mellitus, the axial involvement is less marked, one or (rarely) more extremities are affected