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UNASSIGNED: X-linked myopathy with excessive autophagy is a rare disorder caused by a mutation in the vacuolar ATPase assembly factor gene which causes slowly progressive early onset proximal weakness and loss of ambulation by the age of 50-70 years. Electrodiagnostic (EDx) testing usually shows widespread complex repetitive and myotonic discharges, even in muscles unaffected clinically. We report a 65-year-old man who presented with progressive proximal weakness since his teenage years. Extensive workup over 30 years revealed inconclusive EDx and muscle histopathology findings. The diagnosis was finally made with genetic testing. Subsequent neuromuscular ultrasound was more informative of disease severity than repeat EDx and directed a muscle biopsy that showed an autophagic vacuolar myopathy and the novel identification of vacuoles in capillary endothelial cells. Although genetic testing is required for confirmation, in milder cases of X-linked myopathy with excessive autophagy, neuromuscular ultrasound may aid in diagnosis even when EDx findings are inconclusive.

UNASSIGNED: Vulpian-Bernhardt syndrome is an atypical form of the motor neuron disease described since the 19th century. The importance of a timely diagnosis lies in the increased survival present in this variant. Due to the clinical rarity and complex diagnosis we report a clinical case of this disease, which is why we describe the typical clinical presentation, the diagnostic approach, and we make a bibliographic review of this neurodegenerative disorder as well.
UNASSIGNED: Latin American man whose clinical case onset was characterized by thoracic asymmetric and increasing limb weakness, showing affection from distal to proximal upper limbs area. Subsequently, symptoms worsened to the point of limiting day-to-day activities and conditioning patient\'s physical independence. Physical examination was consistent with motor neuron disease. Nerve conduction studies were performed and confirmed findings compatible with motor neuron involvement limited to thoracic limbs.
UNASSIGNED: Vulpian-Bernhardt syndrome is an uncommon form of motor neuron disease. Due to the rarity of its presentation, it is frequent to confuse clinical profile even for trained physicians. The importance of electrodiagnosis relies in identifying the neurogenic origin of the disease, as well as the active denervation and reinnervation data. Considering that with this syndrome patients have a longer survival than with the classic form of amyotrophic lateral sclerosis, it is important to have a clear diagnosis approach in order to provide a better quality of life and supportive treatment.
UNASSIGNED: el síndrome de Vulpian-Bernhardt es una forma atípica de la enfermedad de la motoneurona descrita desde el siglo XIX. La importancia de un diagnóstico oportuno radica en la mayor supervivencia que presenta esta variante. Debido a la rareza clínica y al diagnóstico complejo presentamos un caso clínico de esta enfermedad, por lo que describimos el cuadro clínico típico, el abordaje diagnóstico y hacemos una revisión bibliográfica de este trastorno neurodegenerativo.
UNASSIGNED: hombre de origen latinoamericano que comenzó su padecimiento con debilidad de miembros torácicos, asimétrica y progresiva de distal a proximal. Los síntomas progresaron hasta limitar sus actividades de la vida diaria y su independencia física. La exploración física fue compatible con enfermedad de motoneurona. Se hicieron estudios de extensión y neuroconducción que confirmaron hallazgos compatibles con afectación en motoneurona limitada a miembros torácicos.
UNASSIGNED: el síndrome Vulpian-Bernhardt es una forma clínica poco común. Debido a su rareza, es fácil confundir el cuadro clínico, incluso por parte de experimentados. La importancia del electrodiagnóstico radica en identificar el origen neurogénico de la enfermedad, los datos de denervación activa y reinervación. Al ser una forma en la que se presenta una supervivencia mayor que en la forma clásica, es importante el diagnóstico claro para dar una mejor calidad de vida y tratamiento de soporte.

Entrapment neuropathy of the ulnar nerve at the elbow, the so-called cubital tunnel syndrome, is the second most frequent focal mononeuropathy after carpal tunnel syndrome in adults. Currently, there is a pressing need to identify cost-effective biomarkers and procedures capable of accurately detecting alterations in ulnar nerve structural and functional integrity. Established electrophysiological techniques, such as motor and sensory nerve conduction studies, along with needle electromyography of specific muscles, represent the gold standard for ulnar nerve electrodiagnosis. Concurrently, the introduction of neuromuscular ultrasound and its integration into electromyographic laboratories has significantly impacted structural diagnosis and the precise localization of ulnar nerve pathology over the past two decades. In this review, our objective is to summarize the current knowledge on both classical and advanced diagnostic methods utilized in clinical neurophysiology laboratories. We aim to provide a synthesis of modern electrodiagnostic and neurosonographic techniques, with a particular emphasis on easily attainable, clinically relevant parameters.

BACKGROUND: The revised international standards for neurological classification of spinal cord injury (ISNCSCI) have facilitated the documentation of non-spinal cord injury-related impairments, such as chronic peripheral nerve injuries and muscle weakness due to immobility. This advancement addresses potential biases in muscle strength examinations. Utilizing electrically evoked contractions from paralyzed muscles, enhanced by electrodiagnosis, holds promise in identifying false-negative diagnoses of non-responsiveness to neuromuscular electrical stimulation. This concept prompts the exploration of polyneuromyopathy arising from nonuse in paralyzed muscles.
UNASSIGNED: To substantiate our hypothesis, we recruited nine participants for a case series aimed at elucidating the potential benefits of incorporating the stimulus electrodiagnostic test (SET) to mitigate non-responsiveness during preparation for functional electrical stimulation (FES)-assisted cycling. In our convenience sample (n = 5), we conducted neurological mapping based on ISNCSCI and applied SET on the quadriceps. The SET guided optimal dosimetry for evoking contractions and revealed responses similar to those observed in peripheral neuropathies, with α coefficients equal to or lower than 2.00. This observation is likely attributable to nonuse of paralyzed muscles, indicative of an ongoing polyneuropathy in individuals with chronic spinal cord injury (SCI).
CONCLUSIONS: Among the nine initially recruited subjects, seven exhibited responsiveness to neuromuscular electrical stimulation (78% responsiveness), with two participants excluded based on exclusion criteria. In the final five reported cases, all displayed α coefficient values indicating impaired neuromuscular accommodation, and one presented no α coefficient within the normal range. The inclusion of electrodiagnosis appears effective in averting non-responsiveness, suggesting the presence of ongoing polyneuropathies in paralyzed muscles.

OBJECTIVE: Diagnostic criteria for multifocal motor neuropathy (MMN) and multifocal acquired demyelinating sensorimotor neuropathy (MADSAM) require the involvement of at least two peripheral nerves. However, many patients with very similar features have clinical involvement of only a single peripheral nerve, which may preclude their correct diagnosis and treatment. The present study aimed to present a cohort of such patients and discuss the role of ultrasonography (US) in their diagnosis.
METHODS: Patients with nonvasculitic immune-mediated motor mononeuropathies (MM) and sensorimotor mononeuropathies (SMM) were recruited prospectively or identified from the electronic records. They were invited to comprehensive follow-up visits consisting of clinical examination, electrodiagnostic (EDx), and US studies.
RESULTS: Twenty-four patients (13 men) were studied (11 with MM). The characteristics of MM and SMM patients were very similar to MMN and MADSAM, respectively. The US, in addition to a long-swollen segment (average length, 20 cm) in the clinically affected nerve, revealed nerve swelling in, on average, six additional sites in clinically unaffected nerves.
CONCLUSIONS: In patients with clinical and EDx involvement of only a single nerve, an US demonstration of multifocal peripheral nerve swelling points to a more widespread, probably dysimmune mechanism. Further studies are needed to evaluate the value of US as a supplementary method for the diagnosis of MADSAM and MMN in patients with clinical involvement of a single nerve.

Neurogenic thoracic outlet syndrome (nTOS) is caused by brachial plexus compression in the thoracic outlet. It accounts for 85%-95% of thoracic outlet syndrome (TOS) cases, which may also be caused by compression of the subclavian artery and vein. Compression occurs in the interscalene triangle, costoclavicular space or subpectoralis minor space, with congenital anomalies and repetitive overhead activities as contributing factors. Diagnosis is challenging due to overlapping symptoms with other conditions. Patients commonly report pain, numbness, tingling and weakness in the neck, shoulder and arm, exacerbated by arm elevation. Symptoms related to nTOS may manifest in the distribution of the upper (C5-C6), middle (C7) and lower plexus (C8-T1). Although widely used, provocative tests have varying degrees of sensitivity and specificity and may have high false-positive rates, complicating the diagnosis. Patterns on electrodiagnostic studies provide key diagnostic clues, such as reduced sensory response in the medial antebrachial cutaneous nerve and low compound motor action potential in the median nerve. Imaging techniques like magnetic resonance imaging (MRI), alongside procedures like diagnostic and therapeutic anterior scalene blocks, assist in identifying anatomical abnormalities and predicting surgical outcomes. Management of nTOS involves lifestyle changes, physical therapy, medication and botulinum toxin injections for symptomatic relief. Surgical options may include supraclavicular, transaxillary and infraclavicular approaches, each offering specific benefits based on patient anatomy and surgeon expertise. Minimally invasive techniques, such as video-assisted thoracoscopic surgery (VATS) and robotic surgery, enhance exposure and dexterity, leading to better outcomes. Future research should focus on developing precise diagnostic tools, understanding nTOS pathophysiology, standardising diagnostic criteria and surgical approaches, comparing long-term treatment outcomes and exploring preventive measures to improve patient care and quality of life. Level of Evidence: Level V (Therapeutic).

Carpal tunnel syndrome (CTS) is caused by compression of the median nerve as it travels through the carpal tunnel. Patients commonly experience pain, paresthesia, and, less often, weakness in the distribution of the median nerve. Provocative maneuvers, such as the Phalen test and Tinel sign, have varying sensitivity and specificity for the diagnosis of CTS. Thenar atrophy is a late finding and highly specific for CTS. Although patients with a classic presentation of CTS do not need additional testing for diagnosis, electrodiagnostic studies can confirm the diagnosis in atypical cases, exclude other causes, and gauge severity for surgical prognosis. An abnormal nerve conduction study is useful for ruling in CTS, but a normal test does not necessarily exclude it. Over-the-counter analgesics, such as nonsteroidal anti-inflammatory drugs and acetaminophen, have not shown benefit for CTS. Patients with mild to moderate CTS initially may be offered nonsurgical treatments, such as splinting or local corticosteroid injections. Night-only splinting is as effective as continuous wear. A neutral wrist splint may be more effective than an extension splint. In patients with recent onset of CTS, corticosteroid injections provide slightly greater improvement of symptoms compared with splinting at 6 weeks, with similar outcomes at 6 months. Patients with severe CTS, including objective weakness or sensory deficits, should be offered surgical decompression. Endoscopic and open carpal tunnel release techniques are equally effective.

The normal functioning of every cell in the body depends on its bioelectric properties and many diseases are caused by genetic and/or epigenetic dysregulation of the underlying ion channels. Metastasis, the main cause of death from cancer, is a complex multi-stage process in which cells break away from a primary tumour, invade the surrounding tissues, enter the circulation by encountering a blood vessel and spread around the body, ultimately lodging in distant organs and reproliferating to form secondary tumours leading to devastating organ failure. Such cellular behaviours are well known to involve ion channels. The CELEX model offers a novel insight to metastasis where it is the electrical excitation of the cancer cells that is responsible for their aggressive and invasive behaviour. In turn, the hyperexcitability is underpinned by concomitant upregulation of functional voltage-gated sodium channels and downregulation of voltage-gated potassium channels. Here, we update the in vitro and in vivo evidence in favour of the CELEX model for carcinomas. The results are unequivocal for the sodium channel. The potassium channel arm is also broadly supported by existing evidence although these data are complicated by the impact of the channels on the membrane potential and consequent secondary effects. Finally, consistent with the CELEX model, we show (i) that carcinomas are indeed electrically excitable and capable of generating action potentials and (ii) that combination of a sodium channel inhibitor and a potassium channel opener can produce a strong, additive anti-invasive effect. We discuss the possible clinical implications of the CELEX model in managing cancer.

OBJECTIVE: Various electrodiagnostic criteria have been developed in Guillain-Barré syndrome (GBS). Their performance in a broad representation of GBS patients has not been evaluated. Motor conduction data from the International GBS Outcome Study (IGOS) cohort were used to compare two widely used criterion sets and relate these to diagnostic amyotrophic lateral sclerosis criteria.
METHODS: From the first 1500 patients in IGOS, nerve conduction studies from 1137 (75.8%) were available for the current study. These patients were classified according to nerve conduction studies criteria proposed by Hadden and Rajabally.
RESULTS: Of the 1137 studies, 68.3% (N = 777) were classified identically according to criteria by Hadden and Rajabally: 111 (9.8%) axonal, 366 (32.2%) demyelinating, 195 (17.2%) equivocal, 35 (3.1%) inexcitable and 70 (6.2%) normal. Thus, 360 studies (31.7%) were classified differently. The areas of differences were as follows: 155 studies (13.6%) classified as demyelinating by Hadden and axonal by Rajabally; 122 studies (10.7%) classified as demyelinating by Hadden and equivocal by Rajabally; and 75 studies (6.6%) classified as equivocal by Hadden and axonal by Rajabally. Due to more strictly defined cutoffs fewer patients fulfilled demyelinating criteria by Rajabally than by Hadden, making more patients eligible for axonal or equivocal classification by Rajabally. In 234 (68.6%) axonal studies by Rajabally the revised El Escorial (amyotrophic lateral sclerosis) criteria were fulfilled; in axonal cases by Hadden this was 1.8%.
CONCLUSIONS: This study shows that electrodiagnosis in GBS is dependent on the criterion set utilized, both of which are based on expert opinion. Reappraisal of electrodiagnostic subtyping in GBS is warranted.