Prednisone-responsive hereditary motor and sensory neuropathy

Area of Science:

• Neurology
• Genetics

Background:

• Chronic progressive polyradiculoneuropathy can present with demyelination and axonal degeneration.
• Hereditary motor and sensory neuropathies often involve pes cavus and hammer toes.

Observation:

• Seven patients exhibited features of both chronic inflammatory-demyelinating polyradiculoneuropathy and hereditary motor and sensory neuropathy.
• Neurologic improvement was observed in these patients following prednisone treatment, sometimes repeatedly.

Findings:

• Patients demonstrated characteristic nerve conduction and electromyographic findings of demyelination and axonal degeneration.
• Cerebrospinal fluid analysis revealed elevated protein concentrations.
• Affected families showed bony abnormalities or subclinical inherited neuropathy.

Implications:

• These cases may represent a prednisone-responsive inherited neuropathy, a chance association, or a causally linked disorder.
• Highlights the potential for treating a specific inherited neuropathy.
• Raises questions about the role of environmental factors in the expression of inherited genes.