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Symptoms and Signs – Differential Diagnosis of Neuropathy, Hereditary
• Charcot-Marie-Tooth (CMT) disease; other genetic, metabolic, and multisystem disorders including:
• Spinocerebellar ataxias
• Friedreich’s ataxia
• Leukodystrophies
• Refsum’s disease (elevated serum phytanic acid)
• Distal spinal muscular atrophies and distal myopathies, which can present with pes cavu and other foot deformities
• Chronic inflammatory demyelinating polyneuropathy (CIDP)
• Hereditary neuropathy with liability to pressure-sensitive palsies (HNPP)
• Hereditary neuralgic amyotrophy (HNA), which typically is painful rather than painless. In addition, in HNA, there is no evidence of generalized polyneuropathy.
• Multifocal motor neuropathy with conduction block (MMNCB): autoimmune mediated and pure motor
• Neuropathy associated with renal failure
• Lead neuropathy
• Neuropathy relating to paraproteinemia (demyelinating pathophysiology)
• Charcot-Marie-Tooth (CMT) disease; other genetic, metabolic, and multisystem disorders including:
• Spinocerebellar ataxias
• Friedreich’s ataxia
• Leukodystrophies
• Refsum’s disease (elevated serum phytanic acid)
• Distal spinal muscular atrophies and distal myopathies, which can present with pes cavu and other foot deformities
• Chronic inflammatory demyelinating polyneuropathy (CIDP)
• Hereditary neuropathy with liability to pressure-sensitive palsies (HNPP)
• Hereditary neuralgic amyotrophy (HNA), which typically is painful rather than painless. In addition, in HNA, there is no evidence of generalized polyneuropathy.
• Multifocal motor neuropathy with conduction block (MMNCB): autoimmune mediated and pure motor
• Neuropathy associated with renal failure
• Lead neuropathy
• Neuropathy relating to paraproteinemia (demyelinating pathophysiology)
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