Carpal tunnel syndrome in inherited neuropathies: A retrospective survey

Panosyan, Francis B.; Kirk, Callyn A.; Marking, Devon; Reilly, Mary M.; Scherer, Steven S.; Shy, Michael E.; Herrmann, David N.

doi:10.1002/mus.25742

Cited by 16 publications

(20 citation statements)

References 26 publications

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“…This may simply reflect the additive effect of focal compression at the level of the carpal tunnel, although it remains to be determined whether MAG‐PN has a specific impact on the median nerve compared to other demyelinating neuropathies. In some inherited neuropathies (such as CMT1X and HNPP), a three‐fold increase in the prevalence of carpal tunnel syndrome has been found 8 . The reduction in TLI was also much more prominent for the median nerve in our cohort, similar to the study of Lozeron, 9,10 where it was noted in 57% of MAG‐PN, 5% of CIDP, and 23% of CMT1a.…”

Section: Discussionsupporting

confidence: 88%

Temporal evolution of nerve conduction study abnormalities in anti‐myelin‐associated glycoprotein neuropathy

et al. 2020

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Background A distal‐predominant demyelinating symmetric pattern is most frequent in patients with neuropathy associated with anti‐myelin‐associated glycoprotein (MAG) antibodies. The literature however lacks longitudinal data to describe whether this is consistent over time. Methods From the Ottawa Neuromuscular Center database, we identified 23 patients with both immunoglobulin M gammopathy and anti‐MAG antibodies. For median, ulnar and fibular motor conduction studies, we analyzed distal latency and amplitude, negative peak duration, terminal latency index (TLI), and conduction velocity. For median, ulnar, sural, and superficial fibular sensory conduction studies, we analyzed distal latency and amplitude. Results were compared for the earliest and the latest data sets. Results The mean time interval between the two assessment points was 6.5 years. Median and ulnar motor nerve conduction studies did not show a significant change for any of the parameters tested. There was disproportionate prolongation of median distal motor latency and reduction in TLI, compared to the ulnar nerve. Deep fibular motor conduction studies showed a marked reduction in amplitudes over time. Sensory potentials were recordable in the upper limb in less than 50% at the first study and less than 25% on the most recent study. There was an even larger attrition of recordable sural and superficial fibular sensory potentials. Conclusions Our results highlight the stability of median and ulnar motor conduction study results over a mean observation period of 6.5 years. In contrast, lower limb motor and all sensory potentials show a marked trend toward becoming unrecordable.

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Section: Discussionsupporting

confidence: 88%

Temporal evolution of nerve conduction study abnormalities in anti‐myelin‐associated glycoprotein neuropathy

et al. 2020

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“…HNPP is caused by the haplo-insufficiency of PMP22 gene 72 ; reduced expression of this myelin protein results in myelin instability and conduction block in response to external pressures 73 , and CTS is a common manifestation in patients with HNPP 74 . Similarly, mutations in SH3TC2 are associated with Charcot–Marie–Tooth disease, which also confers susceptibility to neuropathies, including CTS 75 . Therefore, these two genes would have been reasonable a priori candidate genes for CTS susceptibility in the general population, but neither PMP22 nor SH3TC2 was enriched within our GWAS.…”

Section: Discussionmentioning

confidence: 99%

A genome-wide association analysis identifies 16 novel susceptibility loci for carpal tunnel syndrome

Wiberg

Schmid

et al. 2019

Nat Commun

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Carpal tunnel syndrome (CTS) is a common and disabling condition of the hand caused by entrapment of the median nerve at the level of the wrist. It is the commonest entrapment neuropathy, with estimates of prevalence ranging between 5-10%. Here, we undertake a genome-wide association study (GWAS) of an entrapment neuropathy, using 12,312 CTS cases and 389,344 controls identified in UK Biobank. We discover 16 susceptibility loci for CTS with p < 5 × 10 −8. We identify likely causal genes in the pathogenesis of CTS, including ADAMTS17, ADAMTS10 and EFEMP1, and using RNA sequencing demonstrate expression of these genes in surgically resected tenosynovium from CTS patients. We perform Mendelian randomisation and demonstrate a causal relationship between short stature and higher risk of CTS. We suggest that variants within genes implicated in growth and extracellular matrix architecture contribute to the genetic predisposition to CTS by altering the environment through which the median nerve transits.

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“…Patients with CMT disease can also develop superimposed entrapment neuropathies or a second etiology for their generalized neuropathy, such as CIDP. [12][13][14] Patients with cervical radiculopathy can have superimposed entrapment neuropathies such as carpal tunnel syndrome or cubital tunnel syndrome, otherwise known as double crush syndrome. 15 The second question is the anatomic distribution of the neuropathic process.…”

Section: A Stepwise Approachmentioning

confidence: 99%

A Clinician's Approach to Peripheral Neuropathy

Siao

Kaku

2019

Semin Neurol

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Peripheral neuropathies are a group of disorders that affect the peripheral nervous system, for which hundreds of etiologies have been identified. This article presents a stepwise approach to the evaluation and workup of peripheral neuropathy, which starts with a detailed history of symptoms, family and occupational history, and a neurological as well as general physical exam. Pattern recognition of various neuropathies can help to build a differential diagnosis based on the presentation. Such patterns include acute versus chronic, primary demyelinating versus axonal, hereditary versus acquired, asymmetric versus symmetric, presence of facial palsies, sensory or motor predominant, and presence of prominent autonomic symptoms. Early categorization of the type of neuropathy can help focus the workup for peripheral neuropathy. Nerve conduction studies and electromyography (NCS/EMG) is the primary diagnostic tool in the evaluation of patients with large-fiber polyneuropathy. One of the most important roles of NCS/EMG is to help categorize polyneuropathy as primary axonal versus primary demyelinating. The finding of a primary demyelinating polyneuropathy narrows the differential diagnosis of polyneuropathy dramatically and increases the chances of finding a treatable etiology. Laboratory workup includes serum studies and potentially cerebrospinal fluid, genetic studies, immunological markers, and fat pad biopsy for select patients. Skin biopsy may be used to assess intraepidermal nerve fiber density if small-fiber neuropathy is suspected, and nerve biopsy may be useful in select cases. In recent years, magnetic resonance imaging and neuromuscular ultrasound have also shown promise in the evaluation of peripheral neuropathy. Identification of the etiology of neuropathy is crucial and often time-sensitive, as an increasing number of causes are now reversible or treatable.

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Carpal tunnel syndrome in inherited neuropathies: A retrospective survey

Cited by 16 publications

References 26 publications

Temporal evolution of nerve conduction study abnormalities in anti‐myelin‐associated glycoprotein neuropathy

Temporal evolution of nerve conduction study abnormalities in anti‐myelin‐associated glycoprotein neuropathy

A genome-wide association analysis identifies 16 novel susceptibility loci for carpal tunnel syndrome

A Clinician's Approach to Peripheral Neuropathy

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