Unusual Peripheral Neuropathies. Part III: Intrinsic Inherited Causes

Abstract

Peripheral neuropathy is common and has many different etiologies. This is the last of three articles that review the less-common causes of peripheral neuropathy. Part III reviews the genetically coded causes of peripheral neuropathy, including those related to amyloidosis, neoplasm, paraproteinemias, as well as autosomal dominant, autosomal recessive, and x-linked causes. The extrinsic causes of neuropathy and the reactive or induced causes of neuropathy are covered in separate articles, Part I and Part II, respectively. The brief series reviews unusual causes of neuropathy and describes common presentations and the constellation of clinical findings. The goal is to help the clinician increase the diagnostic yield when sorting out the unusual causes of peripheral neuropathy.

AANEM policy statement on electrodiagnosis for distal symmetric polyneuropathy

“…The most common etiology in developed countries is diabetes mellitus, comprising 30‐80% of all cases . While there are over 200 documented causes, some are uncommon. Despite its prevalence, DSP remained incompletely defined until 2005, when the definition and diagnostic criteria were established by systematic analysis of literature and expert consensus .…”

Unusual Case of Relapsing and Remitting Rash With Progressive Motor Sensory Neuropathy and Spinal Cord Atrophy

“…12 Paraneoplastic peripheral neuropathies are typically length dependent, are axonal with mixed sensory and motor involvement, and can present with an acute demyelinating polyradicuopathy. 3,12 Metabolic causes include porphyria, which can present with acute onset of neuropathy with weakness, areflexia, and sensory loss with rapid progression to quadriplegia requiring respiratory support. 3 Mitochondrial diseases associated with peripheral neuropathy include neuropathy, ataxia, and retinitis pigmentosa and mitochondrial neurogastrointestinal encephalomyopathy, which typically present with a slowly progressive, symmetric length-dependent neuropathy.…”

“…3,12 Metabolic causes include porphyria, which can present with acute onset of neuropathy with weakness, areflexia, and sensory loss with rapid progression to quadriplegia requiring respiratory support. 3 Mitochondrial diseases associated with peripheral neuropathy include neuropathy, ataxia, and retinitis pigmentosa and mitochondrial neurogastrointestinal encephalomyopathy, which typically present with a slowly progressive, symmetric length-dependent neuropathy. 3 Last, the effects of organophosphate exposure in rare cases may not be evident for some time after initial exposure.…”

Is electrodiagnosic testing for polyneuropathy overutilized?

“…A majority of polyneuropathy cases are distal symmetric polyneuropathy (DSP) . Although diabetes mellitus is the most common cause of DSP, there are well over 200 identified causes of peripheral neuropathy . The less common causes can be difficult and expensive to evaluate.…”

“…4 Although diabetes mellitus is the most common cause of DSP, 5 there are well over 200 identified causes of peripheral neuropathy. 6 The less common causes can be difficult and expensive to evaluate. All tests have limited sensitivity and specificity, or both.…”