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Onset of PERM can be acute and progress quickly over weeks to months, though some cases have evolved over several years with exacerbations and remissions. PERM is associated with multiple diseases aside from stiff-person syndrome.

Stiff-person syndrome plus PERM is considered a separate entity.

There is no evidence that classic stiff-person syndrome will progress into PERM.

There is speculation that SPS plus PERM is an end-stage of jerking-limb syndrome.

Initially, two papers reported on five out thirty-eight patients who presented with cerebellar disease, gait ataxia, dysarthria, and oculomotor dysfunction which they labeled SPS-Cer.

Cerebellar manifestations either preceded SPS or occurred concurrently. Brain MRIs were normal. The intrathecal production of glutamic acid decarboxylase antibodies was elevated. GABA–enhancing drugs and immunotherapies improved only the stiffness.

Stiff-person plus PERM patients present with classic stiffness, painful muscles, and spasms in the axial muscles (neck and shoulders) and lower limbs.

Unexplained epilepsy is a diagnostic indicator of PERM. In one case review, up to five percent of stiff-person plus PERM patients exhibited seizures, concurrent cerebral ataxia, or signs of encephalitis (inflammation of the brain).

Symptoms of PERM include prominent brainstem manifestations, which often precede the classic SPS symptoms:

w Diaphoresis (profuse sweating)

w Dysphagia (trouble swallowing)

w Gait ataxia (lack of coordination)

w Severe dysautonomia (faulty transmission of signals to the nerves that control  heart, bladder, intestines, sweat glands, pupils, and blood vessels)

w Corticospinal signs (spasticity, hyperactive reflexes, a loss of the ability to perform fine movements, and an extensor plantar response known as the Babinski sign)

w Myoclonus  (sudden, involuntary jerking of a muscle or group of muscles)

w Seizures (brief blackout followed by a period of confusion, twitching and jerking of limbs)

w Hypersomnia (excessive tiredness)

w Behavioral changes (mood changes such as sudden anger, unexplainable fear, panic, joy, or laughter)

w Pruritus (itching skin)

Involvement of the cranial nerves can lead to:

w Vertigo (dizziness)

w Ataxia (loss of coordination)

w Dysarthria (difficulty speaking due to weak muscles of the face and mouth)

w Opthalmoplegia (weakened eye muscles, double vision, blurred vision)

w Nystagmus (involuntary eye movements)

w Hearing loss

w Muscle wasting and weakness

w Areflexia (loss of neurologic reflexes)

Uniform rigidity throughout passive range of motion of the limbs is severe. Upper motor neuron signs and sensory loss in the legs can be attributed to degenerations of the long tracts in the cervical spinal cord. Myoclonic jerks begin with an abrupt jerk followed by prolonged tonic-clonic activity, profuse sweating, and tachycardia. PERM is usually associated with grossly abnormal cerebrospinal fluid. As the disease progresses, there is an increase in lymphocytosis, pleiocytosis, and oligoclonal bands with raised protein concentration in the cerebrospinal fluid.

Neuronal loss and lymphocyte infiltration has been found in the brainstem and spinal cord. Mild anterior horn cell loss in the ventral horn has also been reported. Rapidly progressive, multifocal, and fatal PERM is connected to both anti-glycine receptor antibodies and anti-NDMA receptor antibodies.

As a separate entity from SPS, PERM has also been associated with cancer. In the Journal of Neurology Science (2010) one case of SPS with PERM preceded a diagnosis of Hodgkin’s lymphoma by more than seven months.

In Neurology (2011), a case report of PERM resolved after thymectomy. The patient was placed on methylprednisolone postoperatively. The patient’s symptoms resolved entirely seven months later. Another case report associated PERM with breast cancer and anti-glycine receptor antibodies.

Response to benzodiazepines and baclofen is poor. Treatment with methylpredinosolone shows dramatic improvement.

The course of the disease is highly variable. Death has been reported between six weeks and three years from onset. Autonomic crises and failure are frequent. Rapid deterioration over days resulting in death has been reported.

Early recognition of the clinical features and early aggressive treatment can make a difference in hospitalization and overall prognosis.

There are two case reports where the patients developed bulbar symptoms followed within weeks by painful, generalized, stimulus-sensitive jerks. Both progressed to respiratory arrest and required ventilation. However, both patients made an almost full recovery. This stresses the importance of supportive treatment despite rapid progression.

An article published in Parkinsonism and Related Disorders (2002) suggested the following similarities and differences between classical SPS and SPS with PERM.

STIFF-PERSON SYNDROME PLUS PROGRESSIVE
ENCEPHALITIS, RIGIDITY, AND MYOCLONUS

What is SPS?     Classic SPS     Progression & Stages     Variants     SPS + PERM     SPS + PNS     Causes