Adult polyglucosan disease. Probable deficiency of glycogen branching enzyme 1-4-glucan-6-glucosyl transferase.
Incidence
Rare disease. Probable autosomal recessive condition.
Clinical Characteristics
This is an entity of adulthood. The patients present with progressive weakness and spasticity of the legs, urinary incontinence and peripheral neuropathy identified by EMG and measurement of nerve conduction velocity. Sensory deficits develop after some time. Cognitive impairment is present in half of the patients. MRI disclosed diffuse brain atrophy and a leukodystrophy in some cases. Diagnosis is based in the finding of polyglucosan bodies in axons in peripheral nerve biopsy. A deficiency of glycogen branching enzyme 1-4-glucan-6-glucosyl transferase has been found in leukocytes, nerves and muscles in some Jewish patients.
Precipitants
no
Provocation Tests
no
Diagnostic Procedures
Diagnosis is based in the finding of polyglucosan bodies in axons in peripheral nerve biopsy.