CANOMAD syndrome

Alternate names

Chronic Ataxic Neuropathy Ophthalmoplegia M-protein Agglutination Disialosyl antibodies syndrome; Chronic sensory ataxic neuropathy with anti-disialosyl antibodies

Definition

CANOMAD syndrome is a rare chronic immune-mediated demyelinating polyneuropathy. CANOMAD stands for Chronic Ataxic Neuropathy Ophthalmoplegia IgM paraprotein Cold Agglutinins Disialosyl antibodies.

Cause

• The underlying cause of CANOMAD syndrome is poorly understood.
• It appears as if IgM antibodies play a crucial role in the development of the disorder.
• It also appears as if the condition is caused in some way by the presence of anti-diasialosyl antibodies in the body.
• The source of anti-diasialosyl antibodies found in individuals with CANOMAD syndrome is unknown.

Signs and symptoms

• The most prominent symptom experienced by the patients was the loss of kinesthesia.
• Kinesthesia refers to the perception of one's own body parts, weight, and movement.
• A loss of kinesthesia refers to the loss of sensation produced in muscles, tendons and joints involved in movement.
• These patients presented with a distinct manner of walking (gait) and an inability to coordinate voluntary muscular movements in the upper limbs.
• This inability to coordinate muscle activity is called 'ataxia'.
• These patients also experienced the feeling or sensation of pricking, tingling, or creeping on the skin in the tissues around the mouth (perioral) or extremities (acral).
• The majority of the cases studied (16 out of the 18) also had motor and sensory cranial nerve involvement, causing paralysis of some of the eye muscles (ophthalmoplegia), difficulty swallowing, difficulty articulating words and, rarely, respiratory muscle weakness.
• These symptoms were constant in some people, but for others the symptoms came and went.
• In general, CANOMAD syndrome tends to have a chronic course that often extends over decades.

Diagnosis

This condition is caused by the presence of anti-diasialosyl antibodies in the body.

Treatment

• Oral or intravenous corticosteroids, ß-interferons, intravenous immunoglobulin (IVIG), plasma exchange, and cytotoxic drugs and a combination of these therapies have all been used in treating CANOMAD syndrome with varying success.
• Their use, however, has not been evaluated systematically.
• In recent years, IVIG seems to be the preferred method of treatment.

NIH genetic and rare disease info

• NIH info on CANOMAD syndrome

CANOMAD syndrome is a rare disease.