Electrodiagnostic Investigations Research Articles

Rare entrapment neuropathies of the lower extremity: A narrative review.

Lower limb entrapment neuropathies comprise a wide range of disorders, including less common conditions like tarsal tunnel syndrome, Morton neuroma, obturator nerve entrapment syndrome, superior gluteal nerve entrapment, and cluneal nerve entrapment syndrome. Despite being less prevalent, these syndromes are equally significant, presenting with symptoms such as pain, dysesthesia, muscular weakness, and distinct physical signs. Accurate diagnosis of these less common disorders is crucial for successful therapy and patient recovery, as they can sometimes be mistaken for lumbar plexopathies, radiculopathies, or musculotendinous diseases. This narrative review highlights the significance of identifying and diagnosing these particular neuropathies through a comprehensive assessment of the patient's medical history, detailed physical examination, and the use of electrodiagnostic and/or ultrasound investigations. When the diagnosis is uncertain, advanced imaging techniques like magnetic resonance neurography or magnetic resonance imaging are necessary to confirm the diagnosis. A positive diagnosis ensures prompt and targeted treatments, preventing further nerve impairments and muscle wasting. This article explores the epidemiology, anatomy, pathophysiology, etiology, clinical presentation, and electrodiagnostic interpretation of lower limb entrapment neuropathies, highlighting the importance of precise diagnosis in achieving favorable patient outcomes.

Characteristics of Hirayama Disease in Young South Korean Soldiers.

The purpose of this study was to describe the clinical presentation and features in electrodiagnostic and imaging investigations of young South Korean males diagnosed with Hirayama disease (HD). We reviewed the electronic medical records of South Korean enlisted soldiers who were diagnosed with HD and discharged from military service during 2011-2021. We investigated the clinical characteristics and results of electrodiagnostic and magnetic resonance imaging (MRI) investigations. We analyzed laterality and identified the involved muscles using needle electromyography (EMG). Loss of lordosis, localized cervical cord atrophy, loss of attachment between the posterior dura and subjacent lamina, asymmetric flattening of the cord, crescent-shaped mass in the posterior epidural space, and noncompressive intramedullary T2-weighted high signal intensity were investigated using neutral- or flexion-position MRI. Forty-two male patients aged 20.2±0.8 years (mean±standard deviation) were identified. All patients complained of hand weakness, and 10 complained of hand tremor (23.8%). Four patients (9.5%) had symptoms in both upper limbs, and five (11.9%) had sensory disturbances. Needle EMG revealed that muscles in the C7-T1 myotome were commonly involved, and C5-C6 involvement of the deltoid (10.5%) and biceps brachii (12.5%) was also observed. In cervical MRI, localized cord atrophy (90.0%) was the most characteristic finding, and cord atrophy was most severe at the C5-C6 level (58.3%). This is the first description of a large number of patients with HD in South Korea. The clinical presentation and features found in electrodiagnostic and imaging investigations will improve the understanding of HD in the young South Korean male population.

Immune-mediated polyneuropathy in cats: Clinical description, electrodiagnostic assessment, and treatment.

Suspected immune-mediated polyneuropathy has been increasingly reported in cats, especially in the last decade, but the condition remains poorly understood. Refine the clinical description and review the classification of this condition based on electrodiagnostic investigation and evaluate the benefit of corticosteroid treatment and L-carnitine supplementation. Fifty-five cats presented with signs of muscular weakness and electrodiagnostic findings consistent with polyneuropathy of unknown origin. Retrospective, multicenter study. Data from the medical records were reviewed. The owners were contacted by phone for follow-up at the time of the study. The male-to-female ratio was 2.2. The median age of onset was 10 months, with 91% of affected cats being <3 years of age. Fourteen breeds were represented in the study. The electrodiagnostic findings supported purely motor axonal polyneuropathy. Histological findings from nerve biopsies were consistent with immune-mediated neuropathy in 87% of the tested cats. The overall prognosis for recovery was good to excellent, as all but 1 cat achieved clinical recovery, with 12% having mild sequelae and 28% having multiple episodes during their lifetime. The outcome was similar in cats with no treatment when compared with cats receiving corticosteroids or L-carnitine supplementation. Immune-mediated motor axonal polyneuropathy should be considered in young cats with muscle weakness. This condition may be similar to acute motor axonal neuropathy in Guillain-Barré syndrome patients. Based on our results, diagnostic criteria have been proposed.

PERIPHERAL NERVOUS SYSTEM DISORDERS: A DIAGNOSTIC APPROACH

Peripheral neuropathy though a common neurological illness has complex aetiology and several different presentations. The term peripheral neuropathy includes symmetric polyneuropathy, single and multiple mononeuropathy, and radiculopathy. Further classication depends on a mixture of phenomenological, pathological, and genetic or other aetiological features. It is heterogeneous in aetiology, diverse in pathology, and varied in severity. Managing a case of perpipheral neuropathy brings along numerous challenges include identifying a case of peripheral neurophy and differentiating it from mimicks, working up for etiology and treatment based on aetiology. Patients can present with either positive or negative symptoms (or both) linked to motor and sensory systems or with autonomic disturbances in some neuropathies. A detailed history and physical examination provides information regarding onset, course and progression of the disease and the type of involvement like generalized, distal or proximal, symmetric or asymmetric, also the type of bre involvement like large myelinated or small unmyelinated and may give clues to neuro anatomic localization of the disease. The diagnosis can be conrmed through a appropriate investigation for the neuropathic pattern like blood tests, Cerebrospinal uid (CSF) analysis, MRI Brain, Ultrasound (USg). These test along with Electro diagnostic investigations like Nerve Conduction Studies (NCS), needle electromyography (EMG) can narrow down differentials and possible aetiologies, However in signicant cases etiology remain undiagnosed. Genetic testing is most diagnostic in carefully selected cases. Sometimes nerve biopsy and skin biopsy may be needed to conrm the etiologies.

Hereditary myopathies associated with hematological abnormalities.

The diagnostic evaluation of a patient with suspected hereditary muscle disease can be challenging. Clinicians rely largely on clinical history and examination features, with additional serological, electrodiagnostic, radiologic, histopathologic, and genetic investigations assisting in definitive diagnosis. Hematological testing is inexpensive and widely available, but frequently overlooked in the hereditary myopathy evaluation. Hematological abnormalities are infrequently encountered in this setting; however, their presence provides a valuable clue, helps refine the differential diagnosis, tailors further investigation, and assists interpretation of variants of uncertain significance. A diverse spectrum of hematological abnormalities is associated with hereditary myopathies, including anemias, leukocyte abnormalities, and thrombocytopenia. Recurrent rhabdomyolysis in certain glycolytic enzymopathies co-occurs with hemolytic anemia, often chronic and mild in phosphofructokinase and phosphoglycerate kinase deficiencies, or acute and fever-associated in aldolase-A and triosephosphate isomerase deficiency. Sideroblastic anemia, commonly severe, accompanies congenital-to-childhood onset mitochondrial myopathies including Pearson marrow-pancreas syndrome and mitochondrial myopathy, lactic acidosis, and sideroblastic anemia phenotypes. Congenital megaloblastic macrocytic anemia and mitochondrial dysfunction characterize SFXN4-related myopathy. Neutropenia, chronic or cyclical, with recurrent infections, infantile-to-childhood onset skeletal myopathy and cardiomyopathy are typical of Barth syndrome, while chronic neutropenia without infection occurs rarely in DNM2-centronuclear myopathy. Peripheral eosinophilia may accompany eosinophilic inflammation in recessive calpainopathy. Lipid accumulation in leukocytes on peripheral blood smear (Jordans' anomaly) is pathognomonic for neutral lipid storage diseases. Mild thrombocytopenia occurs in autosomal dominant, childhood-onset STIM1 tubular aggregate myopathy, STIM1 and ORAI1 deficiency syndromes, and GNE myopathy. Herein, we review these hereditary myopathies in which hematological features play a prominent role.

Transient relapsing neuromyopathy during potassium bromide therapy in a dog

AbstractA 2‐year‐old Australian Shepherd dog was referred because of exercise intolerance and gait abnormalities. The dog had a history of idiopathic epilepsy treated with phenobarbitone and potassium bromide (KBr). The neurological examination was indicative of a generalized lower motor neuron disease. A generalized peripheral neuropathy caused by KBr was suspected. Electrodiagnostic investigation and muscle and nerve biopsies were indicative of unspecific neuromyopathy. KBr was suspended with complete resolution of neuromuscular signs within 1 month but the dog developed cluster seizures refractory to other antiepileptic therapies. KBr was reintroduced with the improvement of the epileptic seizures but relapse of the neuromuscular signs was seen. This relapse confirmed the suspicion of neuromyopathy related to KBr. Bromide intoxication should be suspected in cases of generalized neuromuscular signs also in dogs with normal serum values. An early identification of the cause and suspension of KBr leads to a complete resolution of the symptoms.

Ultrasound for the investigation of ulnar neuropathy

Background: Eliciting the localisation and aetiology of ulnar neuropathy can be difficult based on history, examination and electrodiagnostic investigations (EDX) alone. Nerve ultrasound (US) can be a useful ancillary, point-of-care test.

Traumatic lower extremity and lumbosacral peripheral nerve injuries in adults: Electrodiagnostic studies and patients symptoms

BackgroundPeripheral nerve injuries (PNI) are relatively common pathologies in clinical practice. PNIs are rare in the lower extremity but have worse prognosis than those in the upper extremity. Electrodiagnostic studies could help better understanding PNIs. In this study, we aimed to evaluate the distribution of lower extremity PNI in traumatic patients in northwest of Iran. MethodsIn this prospective study, 74 patients (62 male and 12 female with mean age of 38.39 ± 14.42 years) with possible lower or lumbosacral peripheral nerve injury were studied. Patients' demographic information and physical examination findings were recorded. Electrodiagnostic investigations including electromyography and Nerve Conduction Study were performed for all subjects. ResultsCommon chief complaints were pain and weakness. Impairment in the sensory function was present in 59.5% and muscle force reduction in 47.3%. PNIs were present in 23.0% and mostly were severe. Injuries in sciatic nerve were the most common PNIs (16.2%). Electrodiagnostic studies showed radiculopathy in 48.7% and plexopathy in 8.10% of cases. In 52 patients (70.3%), the physical examination findings were compatible with Electrodiagnostic studies. ConclusionNot all patients presenting with traumatic injuries have lower extremity PNIs. Due to the nature of the trauma and the anatomical course of the nerves, sciatic nerve is more susceptible to traumatic injuries.

O21 Peak ratio and motor unit potential analyses in detection of chronic neurogenic changes in amyotrophic lateral sclerosis

Objectives Peak ratio analysis is a quantitative way of analyzing interference pattern by turns-amplitude analysis. We aimed in this study to compare the sensitivities of peak ratio analysis and quantitative motor unit potential (MUP) analysis in detecting chronic neurogenic changes in amyotrophic lateral sclerosis (ALS). Methods Twenty-two patients (1 definite, 7 probable, and 9 possible ALS according to Awaji criteria as reference standard, and 5 progressive muscular atrophy) were prospectively included. Quantitative MUP and peak ratio analyses were done in 22 biceps brachialis (BB), 22 tibialis anterior (TA) and 18 abductor pollicis brevis (APB) muscles on the least affected side. Results were compared to laboratory controls. The sensitivity of MUP duration and peak ratio was compared using the McNemar chi-square test. Results Peak ratio analysis was more frequently abnormal than MUP analysis in BB (59% vs. 23%), and TA (59% vs. 18%) muscles ( p Discussion Peak ratio analysis sampled at stronger effort detected more frequently chronic neurogenic changes than MUP analysis recruited at weak effort. Conclusions Peak ratio analysis may provide earlier detection of chronic neurogenic changes, thereby facilitating earlier diagnosis of ALS. Significance Peak ratio analysis which is available in commercial EMG machines should be considered in the electrodiagnostic investigation of ALS.

Critical illness polyneuropathy and myopathy in a rural area in Vietnam

IntroductionCritical illness polyneuropathy, myopathy and polyneuromyopathy, grouped under the term CIP/CIM, share several risk factors and are associated with debilitating outcomes. ObjectiveTo assess the incidence and distribution of CIP/CIM subtypes and evaluate the risk factors and outcomes of CIP/CIM in a rural hospital in Vietnam. MethodOne hundred and thirty three critically ill patients treated more than ten days in the ICU were enrolled. The Medical Research Council (MRC) sum scores and the Overall Neuropathy Limitations Scale (ONLS) score were calculated and risk factors were monitored. Extensive electrodiagnostic investigations were performed to confirm the diagnosis of CIP/CIM. ResultsCIP/CIM was diagnosed in 73 (55%) patients. The distribution of polyneuropathy, myopathy and polyneuromyopathy was 35 (48%), 16 (22%) and 22 (30%), respectively. Independent risk factors included systemic inflammatory response syndrome, shock, and electrolyte disturbances. Compared to patients without CIP/CIM, patients with CIP/CIM experienced a mortality rate of 49% vs. 30%, a length of stay in ICU of 20.3days vs. 14.3days, an ONLS score at day thirty of 4.2 vs. 1.3 and at day ninety of 2.7 vs. 1.8. ConclusionThe study revealed that the diagnosis of CIP/CIM was associated with significantly poorer outcomes in comparison to controls.

A Cor-Relational Study between Carpal Tunnel Syndrome Questionnaire and Nerve Conduction Study in Computer Operators

Background: Prevalence of Carpal Tunnel Syndrome (CTS) is increased because of increased use of computers. Repetitive stress injuries and sustained abnormal posture thought to be mechanisms for CTS in key board users. Nerve Conduction Velocity (NCV) is gold standard electro-diagnostic investigation which also measures severity of CTS. Carpal Tunnel Questionnaire Score (CTQS), a symptom severity based questionnaire is cost effective, less time consuming and easily administrable tool which is commonly used in clinical setup.

Kennedy disease misdiagnosed as polymyositis: a case report

BackgroundPolymyositis is an immune-mediated myopathy with clinical features of proximal muscle weakness. Dysphagia and neck flexor weakness can develop along with respiratory muscle weakness as the disease progresses. Kennedy disease or X-linked spinobulbar muscular atrophy is a rare X-linked recessive disorder with clinical features of slowly progressive atrophy and weakness of limb and bulbar muscles. These two disorders may have overlapping clinical manifestations.Case presentationWe present the case of a 52-year-old Filipino man with chronic weakness involving his proximal muscle groups who carried the diagnosis of polymyositis and was refractory to multiple immunomodulatory therapies. Further neurologic examination and history taking along with selective serologic and electrodiagnostic studies instead confirmed the diagnosis of Kennedy disease.ConclusionsDistinction between polymyositis and Kennedy disease may be difficult given the potential overlapping clinical manifestations. However, with careful neurological history taking, examination, and selective serologic plus electrodiagnostic investigations the correct diagnosis may be made, thus sparing the patient ineffective therapy. One must always be sure of the diagnosis of polymyositis before it’s classified as refractory.

Muscle disorders: the latest investigations

Patients with muscle disorders can present a diagnostic challenge to physicians because of the different ways they can present and the large number of different underlying causes. Recognition of the 'myopathic phenotype' coupled with investigations usually including electrodiagnostic and histological investigations have been essential for diagnosing the underlying cause of a myopathy. Despite these standard investigations, some patients can remain undiagnosed. New tests including more specific antibody tests for immune-mediated myopathies and the introduction of next-generation sequencing promise to revolutionise diagnostic approaches for immune and inherited myopathies, but clinical expertise remains essential to choose the most appropriate tests and interpret the results. The aim of this review is to provide an overview of the different presentations to the neuromuscular clinic and the latest investigations that can be helpful in the diagnosis of muscle disorders.

Benefit of the Awaji diagnostic algorithm for amyotrophic lateral sclerosis: A prospective study

Early and accurate diagnosis of amyotrophic lateral sclerosis (ALS) is important for patient care and for entry in clinical trials. Retrospective studies suggest that the use of the Awaji algorithm for the diagnosis of ALS is more sensitive for early diagnosis than the currently used revised El Escorial criteria. We prospectively compared the revised El Escorial criteria with the Awaji algorithm in patients seen with suspected ALS at the University Hospitals Leuven between January 2008 and April 2010. Out of 200 patients referred for the diagnosis of ALS, 66% and 85% could be categorized to definite or probable ALS at first presentation according to the revised El Escorial and the Awaji algorithm, respectively (p < 5.6 × 10(-17) ). This corresponds to a >50% reduction of patients not eligible for clinical trial entry. Application of the Awaji algorithm made the diagnosis of ALS more likely by at least 1 diagnostic category in 25.7% of patients and identified at least 1 additional region with electrodiagnostic signs of ongoing lower motor neuron loss in 46.4% of electrodiagnostic investigations. Application of the Awaji algorithm did not result in a single false-positive diagnosis of ALS in this study. Our data demonstrate that the Awaji algorithm is significantly more sensitive compared to the revised El Escorial criteria, without resulting in false-positive diagnoses of ALS. It should therefore be used in clinical trials.

Polyneuropathy and dementia in old age: common inflammatory and vascular parameters

Thirty-three inpatients (22 females, 11 males, aged 79.4 ± 9.5 years) were investigated in this prospective cohort study to study the prevalence of polyneuropathy (PNP) and dementia in geriatric inpatients. Clinical and electrodiagnostic investigations, routine laboratory, including thyroid parameters, folic acid, vitamin B(12), homocysteine, neopterin, fibrinogen and glycosylated hemoglobin were measured in serum, the mini-mental state examination and computed tomographic scanning were performed in each patient. PNP was found clinically and electrodiagnostically in 96% of patients. Age was the most precipitating factor for PNP, and was significantly correlated to electrodiagnostic changes in the nerves investigated in both, upper and lower extremities, while clinical symptoms were confined only to the feet. Correlation was seen between homocysteine and the amplitude of the sural nerve (surAmpl) (rs = -0.406, p = 0.029) as well as the sural nerve conduction velocity (surNCV) (rs = -0.389, p = 0.037), and between neopterin and the grade of denervation (rs = 0.445, p = 0.014) in our patients. Neopterin and fibrinogen did not correlate significantly, but there was a trend to higher fibrinogen concentrations in patients with higher neopterin levels (rs = 0.344, p = 0.062). A trend of a correlation was seen between higher homocysteine concentrations and the number of changes in electrodiagnostic measurements (rs = 0.354, p = 0.055). Twenty-one of the 33 patients (64%) were demented, 9 (27%) presented clinically as mild cognitive impairment, 3 (9%) were not demented. Vascular risk factors were found in 83%: hypertension in 58%, hypercholesterinemia in 39%, cardiac disease in 36%, diabetes mellitus (DM) in 21%, peripheral arterial disease (PAD) in 9%. A significant correlation was found between homocysteine and folic acid concentrations (rs = -0.401, p = 0.028). Falls were reported in 48% of cases, indicating PNP as a risk factor in this group of patients. In conclusion, PNP was found very common with a high coincidence with dementia and a female preponderance, suggesting an influence on daily life (falls) in our subjects studied. PNP correlated significantly with markers for vascular disease as well as immune activation (homocysteine and neopterin) similar to earlier findings in patients with neurodegenerative disorders, suggesting common therapeutic options in patients with PNP and dementia.

The Office Evaluation of Weakness

The office evaluation of weakness can be a daunting task. Many different disorders affecting many different parts of the nervous system can manifest with "weakness," and several nonneurologic conditions may present with complaints of weakness. It is the job of the neurologist to determine whether a patient has neurologic weakness or suffers simply from fatigue. The physician then must properly localize the pathophysiologic site of weakness. The author focuses on neuromuscular causes of weakness affecting muscle, the neuromuscular junction, peripheral nerve, or the anterior horn cell. General historical and examination clues to localization will be discussed. A localization-based evaluation will be outlined, with more specific recommendations regarding the evaluation of a few specific disorders offered. Localization-specific laboratory, electrodiagnostic, imaging, and pathologic investigations will be presented.

Vocal Cord Dysfunction Arising From Vagal Nerve Stimulator Removal

Back to table of contents Previous article Next article Letters to the EditorFull AccessVocal Cord Dysfunction Arising From Vagal Nerve Stimulator RemovalSHIVA PRAKASH SRINIVASAN M.D.JONATHAN M. HALL D.O.RAPHAEL J. LEO M.A., M.D.,SHIVA PRAKASH SRINIVASAN M.D.Search for more papers by this authorJONATHAN M. HALL D.O.Search for more papers by this authorRAPHAEL J. LEO M.A., M.D.Search for more papers by this author,Published Online:1 Dec 2009https://doi.org/10.1176/appi.ajp.2009.09060861AboutSectionsPDF/EPUB ToolsAdd to favoritesDownload CitationsTrack Citations ShareShare onFacebookTwitterLinked InEmail To The Editor: In 2005, vagal nerve stimulation received approval for treatment of adult patients with refractory major depressive disorder. Adverse effects associated with vagal nerve stimulation implantation are cough, hoarseness, and dysesthesias of the throat related to electrical stimulation, along with rare cases of localized deep-tissue infection (1 – 3) . Seldom is removal of the device required, although it is recommended in cases of infection refractory to treatment (such as aspiration and antibiotics) or potential systemic infection (4) . We report the unique case of a patient requiring vagal nerve stimulator removal, which resulted in vocal cord hoarseness. “Mr. B” was a 54-year-old man with a history of hypertriglyceridemia as well as depression refractory to treatment in multiple antidepressant trials. He had undergone vagal nerve stimulator implantation in November 2006. The procedure was well tolerated, and no adverse effects were reported. He seemingly appreciated an improvement in mood. The patient first came to our unit when his clinical course was complicated by meningitis. Culture from CSF revealed pan-sensitive Staphylococcus aureus . An infectious diseases consult raised the concern that vagal nerve stimulator presented an infection source, which prompted explantation of the device (including the generator, leads, and wire coil) in March 2008. Subsequently, the patient developed hoarseness and left vocal cord paralysis. Electromyographic investigation revealed abnormalities limited to the left thyroarytenoid muscle, suggestive of an incomplete left recurrent laryngeal nerve lesion. Review of Mr. B’s operative report was noteworthy for the observation that the vagus nerve was invested with scar tissue requiring “meticulous and tedious” excision. The etiology of the patient’s vocal cord paralysis was presumed to be the result of direct trauma related to scar tissue and wire-coil removal impinging upon the recurrent laryngeal nerve.After 5 months of intensive speech therapy, the patient manifested nearly complete functional recovery, with marked improvement in vocal fatigue. However, stroboscopic-video vocal cord examination and follow-up electrodiagnostic investigations revealed a residual and permanent neurologic injury, even at 9 months postinjury. The patient elected not to have another vagal nerve stimulation implant and instead pursued antidepressant pharmacotherapy, with adequate response. Although deep-tissue infection arising after vagal nerve stimulator implantation is uncommon, there can be considerable morbidity in instances in which infection occurs (1 , 4) . The literature to date suggests that these problems are generally encountered within 1 month postimplantation (4) . The present case is the first, to our knowledge, in which meningitis in an adult patient prompted vagal nerve stimulation hardware removal and, most notably, scar tissue excision and hardware removal precipitated a permanent left recurrent laryngeal nerve injury. The most appropriate and efficacious approaches to treating deep-tissue infection and meningitis arising after implantation is limited in the available literature. Because of hazards encountered in the excision of scar tissue associated with explantation, treatment with intravenous antibiotics while retaining the wire coil in situ may be the most prudent first-line approach to the management of complications (1) . Refractory, persistent infection, despite conservative treatment, might necessitate eventual device removal. Patients considering vagal nerve stimulation treatment will need to be made aware of the risks of infection and potential complications if explantation is ever required. Buffalo, N.Y.The authors report no financial relationships with commercial interests.This letter (doi: 10.1176/appi.ajp.2009.09060861) was accepted for publication in July 2009.

A Novel Haplotype with the R345W Mutation in theEFEMP1Gene Associated with Autosomal Dominant Drusen in a Japanese Family

To describe ophthalmic and molecular genetic findings in a family of Japanese patients with Malattia leventinese (ML)/Doyne honeycomb retinal dystrophy (DHRD), also known as autosomal dominant drusen. Four patients with ML/DHRD, including a 42-year-old female proband, were ascertained. The proband underwent complete ophthalmic examinations, including fundus and electrodiagnostic investigations, and Humphrey visual field (VF) perimetry. Mutation screening of the EFEMP1 gene and haplotype analysis were performed in the family, an Indian ML/DHRD family, and a branch of 1 of 39 ML/DHRD families in the United States, in which all affected patients shared a common haplotype. A heterozygous missense mutation (p.R345W) was identified in all four Japanese patients and in affected patients of the other two families. This mutation was the only mutation that has been exclusively found in the gene. The disease haplotype in the Japanese family was different from those of the other two families. Clinically, central retinas were prominently affected in the proband and her mother, and subsequently the proband developed subfoveal choroidal neovascularization in the left eye, whereas her younger sister with the mutation, who was asymptomatic, exhibited only fine macular drusen. Long-term follow-up of Humphrey VF and multifocal-electroretinography (mfERG) in the proband also revealed progressive attenuation of macular function in the right eye. This is the first report to describe a Japanese family with variable expressivity of ML/DHRD, in which a novel disease haplotype was identified. Humphrey VF and mfERG testing may be helpful in determining the long-term outcome of macular function.

Thermal perception thresholds among young adults exposed to hand-transmitted vibration

Quantitative sensory testing assesses non-invasively the function of the sensory pathways from receptors to cortex. Studies of workers exposed to vibration support evidence that neuro-sensory hand-arm vibration syndrome also encompasses neuropathy of the small-diameter nerve fibres. To assess the risk of disturbed thermal perception developing among young adults exposed to vibration and hand-intensive manual work. The aim also encompasses the study of alternative covariates in small-diameter nerve fibre neuropathy assessment. This cross-sectional multi-centre study comprised 202 males and females from vocational school programs in auto mechanics, construction and catering. The testing included a baseline questionnaire, a clinical examination focusing on upper extremity disorders and quantitative somatosensory testing. Thermal perception thresholds were assessed, on both hands, second and fifth digits, using a modified Marstock method for warmth and cold. Reduced thermal perception sensitivity was found for digit II compared to digit V, for females compared to males, and between the two study centres. Subjects exposed to vibration at work showed reduced sensitivity to temperature compared to non-vibration exposed. In univariate analyses odds ratios of 1.06 (95% CI 1.006-1.118) and 1.02 (95% CI 0.971-1.078) for reduced perception to cold for the right and left hands, respectively, was found for vibration. This association was lost in multivariate analyses. The study centre was the strongest confounding influence. Sensitivity to temperature appears to be reduced despite the subjects short exposure-time and low exposure to vibration. The effect is small in relation to other confounding factors. A low agreement between the modalities indicates the need for separate tests for cold and warmth. Hand-side, age, stature, and BMI were not important for thermal perception but study centre, gender and choice of digit were. Conventional electro-diagnostic investigations are inadequate for evaluating the status of the small-fibre afferent systems leaving QST of thermal perception as the preferred diagnostic tool.

Idiopathic Neuralgic Amyotrophy: An Illustrative Case Report

Objective To describe the case of a patient diagnosed with neuralgic amyotrophy (NA) illustrating pertinent aspects of differential diagnosis, the use of clinical neurophysiological procedures to aid in establishing the diagnosis, and issues of management. Clinical Features A 39-year-old male soldier presented with a rapid onset of marked loss of left shoulder movement. This started acutely early one morning as a sharp, severe lower neck pain progressing over the following 2 weeks to a less severe dull ache in the left shoulder and arm. Pain was rapidly replaced with weakness. Physical examination and electrodiagnostic investigation helped establish a diagnosis of NA. Intervention and Outcome The patient was reassured that this is normally a self-limiting condition. Range of motion exercises progressing to a strengthening program was prescribed. He was progressing well; however, we lost contact because of his commitments in the armed service. Conclusion When a patient presents with shoulder and arm pain of neurogenic origin, NA should be a consideration. Differentiating NA from radiculopathy is especially important in making management decisions. With a careful history and physical examination, the diagnosis may be made without the need for ancillary investigations. Neuralgic amyotrophy is a self-limiting condition requiring reassurance and monitoring.