Autonomic involvement in inherited neuropathies

Area of Science:

• Neurology
• Genetics
• Metabolic Disorders

Background:

• Inherited peripheral neuropathies are a significant group of neurological disorders.
• The underlying metabolic defects are identified in some cases but unknown in most.
• Autonomic nervous system involvement is a notable feature in various inherited neuropathies.

Purpose of the Study:

• To review the role of autonomic dysfunction in inherited peripheral neuropathies.
• To highlight specific conditions where autonomic involvement is prominent.
• To discuss the diagnostic and clinical implications of autonomic dysfunction in these disorders.

Main Methods:

• Literature review of inherited peripheral neuropathies with autonomic involvement.
• Analysis of clinical manifestations and genetic underpinnings.
• Categorization of neuropathies based on the presence and severity of autonomic symptoms.

Main Results:

• Autonomic dysfunction is a key component in porphyric neuropathy, familial amyloid polyneuropathies, Fabry's disease, and dopamine beta-hydroxylase deficiency.
• Hereditary sensory and autonomic neuropathies exhibit variable degrees of autonomic disturbances.
• Autonomic dysfunction is also significant in multiple endocrine neoplasia type IIB.

Conclusions:

• Autonomic involvement is a critical aspect of several inherited peripheral neuropathies.
• Understanding the spectrum of autonomic dysfunction aids in diagnosis and management.
• Further research is needed to elucidate the mechanisms in neuropathies with unknown metabolic defects.