scholarly journals Neuromuscular Mimics of Entrapment Neuropathies of Upper Extremities

Hand ◽  
2020 ◽  
Vol 15 (5) ◽  
pp. 599-607
Author(s):  
James M. Gilchrist ◽  
Sudeepta Dandapat
Keyword(s):  
Diagnostic Testing ◽  
Multifocal Motor Neuropathy ◽  
Upper Extremities ◽  
Hereditary Neuropathy ◽  
Motor Neuropathy ◽  
Charcot Marie Tooth Disease ◽  
Entrapment Neuropathies ◽  
Tunnel Syndrome ◽  
Pressure Palsies ◽  
Entrapment Syndromes

Introduction: Carpal tunnel syndrome and ulnar neuropathy are such common maladies affecting the upper extremties that they often become the default diagnosis when patients complain of numbness, pain, or weakness of the hands. While often correct, there are a number of other conditions that can also cause sensory or motor loss of the hands, which should be considered when appropriate, as they can mimic upper extremity entrapment syndromes. Methods: In this review, we will discuss such mimics, including Charcot-Marie-Tooth disease, multifocal motor neuropathy, hereditary neuropathy with pressure palsies, mononeuropathy multiplex, Lewis-Sumner syndrome, brachial plexitis (Parsonage-Turner syndrome), myotonic dystrophy, inclusion body myopathy, and distal myopathy of Welander. We will discuss the clinical presentation, as well as diagnostic testing, treatment (if available), and prognosis. Conclusion: The objective is to provide a differential diagnosis for those patients who do not fit well clinically or respond to usual therapy for entrapment neuropathy of the upper extremities.

Characterising the phenotype and mode of inheritance of patients with inherited peripheral neuropathies carrying MME mutations

2018 ◽  
Vol 55 (12) ◽  
pp. 814-823 ◽  
Author(s):  
Vincenzo Lupo ◽  
Marina Frasquet ◽  
Ana Sánchez-Monteagudo ◽  
Ana Lara Pelayo-Negro ◽  
Tania García-Sobrino ◽  
...  
Keyword(s):  
Autosomal Recessive ◽  
Late Onset ◽  
Axonal Neuropathy ◽  
Genetic Diagnosis ◽  
Hereditary Neuropathy ◽  
Motor Neuropathy ◽  
Charcot Marie Tooth Disease ◽  
Hereditary Motor Neuropathy ◽  
Index Cases ◽  
Mode Of Inheritance

BackgroundMutations in the metalloendopeptidase (MME) gene were initially identified as a cause of autosomal recessive Charcot-Marie-Tooth disease type 2 (CMT2). Subsequently, variants in MME were linked to other late-onset autosomal dominant polyneuropathies. Thus, our goal was to define the phenotype and mode of inheritance of patients carrying changes in MME.MethodsWe screened 197 index cases with a hereditary neuropathy of the CMT type or distal hereditary motor neuropathy (dHMN) and 10 probands with familial amyotrophic lateral sclerosis (fALS) using a custom panel of 119 genes. In addition to the index case subjects, we also studied other clinically and/or genetically affected and unaffected family members.ResultsWe found 17 variants in MME in a total of 20 index cases, with biallelic MME mutations detected in 13 cases from nine families (three in homozygosis and six in compound heterozygosis) and heterozygous variants found in 11 families. All patients with biallelic variants had a similar phenotype, consistent with late-onset axonal neuropathy. Conversely, the phenotype of patients carrying heterozygous mutations was highly variable [CMT type 1 (CMT1), CMT2, dHMN and fALS] and mutations did not segregate with the disease.ConclusionMME mutations that segregate in an autosomal recessive pattern are associated with a late-onset CMT2 phenotype, yet we could not demonstrate that MME variants in heterozygosis cause neuropathy. Our data highlight the importance of establishing an accurate genetic diagnosis in patients carrying MME mutations, especially with a view to genetic counselling.

Focal peripheral neuropathy

2011 ◽  
Author(s):  
Michael Donaghy
Keyword(s):  
Peripheral Nerve ◽  
Immunosuppressive Treatment ◽  
Conduction Block ◽  
Multifocal Motor Neuropathy ◽  
Nerve Damage ◽  
High Dose ◽  
Motor Neuropathy ◽  
Peripheral Nerve Damage ◽  
Entrapment Neuropathies ◽  
Focal Neuropathy

Some causes of focal peripheral nerve damage are self-evident, such as involvement at sites of trauma, tissue necrosis, infiltration by tumour, or damage by radiotherapy. Focal compressive and entrapment neuropathies are particularly valuable to identify in civilian practice, since recovery may follow relief of the compression. Leprosy is a common global cause of focal neuropathy, which involves prominent loss of pain sensation with secondary acromutilation, and requires early antibiotic treatment. Mononeuritis multiplex due to vasculitis requires prompt diagnosis and immunosuppressive treatment to limit the severity and extent of peripheral nerve damage. Various other medical conditions, both inherited and acquired, can present with focal neuropathy rather than polyneuropathy, the most common of which are diabetes mellitus and hereditary liability to pressure palsies. A purely motor focal presentation should raise the question of multifocal motor neuropathy with conduction block, which usually responds well to high-dose intravenous immunoglobulin infusions.

The Prevalence of Hereditary Neuropathy With Liability to Pressure Palsies in Patients With Multiple Surgically Treated Entrapment Neuropathies

2005 ◽  
Vol 30 (6) ◽  
pp. 1236-1241 ◽  
Author(s):  
Michael D. Sander ◽  
David Abbasi ◽  
Amanda L. Ferguson ◽  
Curtis M. Steyers ◽  
Kai Wang ◽  
...  
Keyword(s):  
Hereditary Neuropathy ◽  
Entrapment Neuropathies ◽  
Pressure Palsies

Disorders of single nerves, roots, and plexuses

2016 ◽  
Author(s):  
Kerry R. Mills
Keyword(s):  
Nerve Conduction ◽  
Cervical Radiculopathy ◽  
Multifocal Motor Neuropathy ◽  
Nerve Conduction Studies ◽  
Motor Neuropathy ◽  
Vasculitic Neuropathy ◽  
Brachial Neuritis ◽  
Pressure Palsies ◽  
Lateral Sclerosis

The role of electromyography (EMG) and nerve conduction studies in disorders of single nerve, root, and plexus lesions are discussed. The motor and sensory anatomy underpinning diagnosis is described and a scheme presented showing the key muscles to be examined using EMG to differentiate nerve, plexus, and root lesions. The main causes of mononeuritis multiplex, of either axonal degeneration or demyelinative pathology, are covered, including diabetic neuropathy, vasculitic neuropathy, multifocal motor neuropathy with block, and the Lewis–Sumner syndrome. The confirmatory role of EMG and nerve conduction studies in the investigation of cervical and lumbar radiculopathies is highlighted as is the use of transcranial magnetic stimulation to differentiate cervical radiculopathy with myelopathy from amyotrophic lateral sclerosis. The neurophysiological hallmarks of traumatic cervical plexus lesions, including obstetric causes, inherited and acquired brachial neuritis, hereditary liability to pressure palsies, the cervical rib syndrome, and radiation plexopathy are also covered.

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