Motor and sensory nerve conduction velocities (NCVs) and needle electromyography (EMG) results were reviewed in 26 children with different types of congenital muscular dystrophy (CMD), including patients with mutations in the genes LAMA2, FKRP, and COL6A2. In every patient, at least one EMG examination detected myopathic changes that were predominant ...

Conventional EMG, nerve conduction studies and SFEMG were performed in 18 patients with various phenotypes of MD. 14 cases showed findings consistent with mild myopathy, 2 patients signs of sensory-motor axonal neuropathy and 2 cases a mixture of myopathy and axonal neuropathy. Motor unit fiber density was mild increased in ...

AIM OF STUDY: To assess the utility of laryngeal electromyography (EMG) as a diagnostic method for patients with immobile vocal folds and to evaluate its possible role as a prognostic indicator in the management of those cases. METHODOLOGY: The study included 35 patients with unilateral vocal fold immobility (VFI) and ...

OBJECTIVE: The objective of the present study was to compare postural mechanisms identified by using dual force platform in healthy elderly community-dwelling subjects and diabetic sensory neuropathy (DSN) patients under different visual conditions. RESEARCH DESIGN AND METHODS: The presence and the severity of the sensory neuropathy was evaluated with a ...

Chronic inflammatory demyelinating polyneuropathy (CIDP) is characterized by multifocal demyelination along the course of the nerves, and involvement of the intermediate segments may correlate with more severe demyelination associated with breakdown of the blood-nerve barrier. Threshold electrotonus was used to study whether altered membrane properties of the median nerve at ...

Patients with diabetes mellitus (DM) may develop chronic inflammatory demyelinating polyneuropathy (CIDP), which may be difficult to distinguish from diabetic neuropathy (DNP). Here the authors show that immunoreactivity for matrix metalloproteinase-9 on sural nerve biopsies may help to identify CIDP-DM. In a pilot study on 10 CIDP-DM patients with IV ...

The objective of this study was to examine the clinical signs, symptoms and course of neuropathies in patients with leprosy who after treatment developed nerve impairment, not explained by relapse or reversal reactions. We searched the case-records of leprosy patients, seen between 1985 and 2002 at the department of dermatology ...

Orthostatic hypotension is the most incapacitating symptom of autonomic failure. This disorder occurs with both central autonomic neurodegenerative disorders, such as multiple system atrophy and Parkinson's disease, and peripheral autonomic disorders, such as the autonomic peripheral neuropathies and pure autonomic failure. The hallmark of both central and peripheral causes of ...

Electrophysiological functions of ulnar and median nerves in paucibacillary leprosy patients were studied. Patients who showed deterioration of sensory motor functions in spite of steroid therapy were offered nerve decompression together with oral steroids. On periodic follow-up of those who opted for surgery, it was observed, in general, that NCV ...

OBJECTIVE: A substantial number of sarcoidosis patients report apparently non-specific symptoms such as pain, for which no organic substrate has yet been found. Recently we observed symptoms suggestive of small-fibre neuropathy in a group of sarcoidosis patients. The aim of the present study was to verify this observation using various ...

Primary amyloidosis (AL) may be complicated by peripheral neuropathy in 15-35% of cases. We report on four patients with atypical neurological presentations of AL neuropathy, whose diagnoses were delayed due to varied clinical presentations. The clinical presentation included painful sensory neuropathy (two patients), mononeuropathy multiplex (one patient), and primary demyelinating ...

Familial amyloidotic polyneuropathy (FAP) is an autosomal dominant disorder caused by mutation in the transthyretin gene. The most common mutation is substitution of valine for methionine at position 30 (MET30). Liver transplantation (LT) is the preferred treatment. After LT, although many patients show stabilization or improvement in the disease, adverse ...

BACKGROUND: Peripheral neuropathy is a prominent feature of the systemic and secondary vasculitides. Usually, it is responsive to corticosteroids, but in certain cases it may be resistant to corticosteroid or immunosuppressive treatment, or both. OBJECTIVE: To present patients who exhibited various inflammatory diseases accompanied with vasculitic peripheral neuropathies for which ...

OBJECTIVE: Multifocal motor neuropathy with persistent conduction blocks is classically described as a chronic neuropathy with progressive onset, and acute forms have not previously been characterised. We report four cases of severe motor impairment with acute and generalised onset and with persistent motor conduction blocks. PATIENTS AND RESULTS: An acute ...

This report describes a 5-year-old girl with Langerhans' cell histiocytosis (LCH) of the clivus. To date only five patients, including our patient, have been described with LCH at this site. Our patient differs from those previously reported by her atypical clinical presentation with torticollis, but without a sixth nerve palsy. ...

OBJECTIVE: To assess the frequency and type of vascular changes and neurologic abnormalities in patients with erythromelalgia. DESIGN: Prospective study of patients with no spontaneous symptoms at the time of their visit and with provoked symptoms. SETTING: Tertiary referral center. PATIENTS: Sixty-seven patients presenting with erythromelalgia at Mayo Clinic, Rochester, ...

The authors investigated whether T cells have a role in the pathogenesis of axonal polyneuropathy and monoclonal gammopathy by comparing the presence of T cells in sural nerves of 23 patients with axonal polyneuropathy and monoclonal gammopathy (12 IgM, 11 IgG), of 15 patients with chronic idiopathic axonal polyneuropathy, and ...

Because patients with scleroderma report neuropathic symptoms including numbness, paresthesias, and dysesthesias, we assessed peripheral nerve function in such patients. Fourteen scleroderma patients underwent complete neurologic examination, nerve conduction studies (NCS) and quantitative sensory testing (QST). Neurologic examination revealed reduced vibration (7) or pinprick (4) sensation in the upper or ...

Poliomyelitis has recently been identified as a cause of muscle weakness in patients with West Nile virus (WNV) infection. However, the clinical spectrum of WNV-associated weakness has not been described. We reviewed data on 13 patients with WNV infection. Patients with muscle weakness were classified into one of three distinct ...

Trigeminal neuralgia is considered as a paroxysmal single nerve phenomenon. Abnormal sensory perception has been previously described in 15-25% of patients with clinical examination. Quantitative sensory testing (QST) was used to evaluate sensory perception in patients with idiopathic trigeminal neuralgia (ITN). Nine patients and 10 normal control subjects were evaluated ...

OBJECTIVE: To assess the value of clinical (House-Brackmann grading) and neurophysiological (conventional electroneurography) monitoring of the facial nerve before and after (at day 10 and day 80) microsurgical parotidectomy in a group of patients with parotid tumors. STUDY DESIGN AND SETTING: From January 7, 1999, to February 27, 2001, 33 ...

Progression periods for Guillain-Barré syndrome (GBS) differ from those of chronic inflammatory demyelinating polyneuropathy (CIDP), but physicians could classify patients with CIDP within 4 weeks of onset as GBS. We studied and report the frequency of GBS patients who were later diagnosed as CIDP (11/663, 2%). Plasmapheresis or intravenous immunoglobulin ...

This paper reports three females and two males with a distinctive congenital syndrome characterized by severe congenital hypotonia, facial diplegia, jaw ankylosis, velo-pharyngeal incoordination, pyramidal tract signs, and ocular motor apraxia. Patients were followed up at ages ranging from 20 months to 16 years. All cases of this syndrome are ...

The purpose of this study is to define the prevalence of peripheral nerve injury associated with full-thickness tears of the rotator cuff presenting with shoulder muscle atrophy. Twenty-five patients with the diagnosis of full-thickness rotator cuff tear were included. Electrodiagnostic testing, including nerve conduction studies and needle examination, was performed ...

OBJECTIVE: To measure the motor performance of the flexor pollicis brevis, first dorsal interosseus, and flexor pollicis longus muscles using the parameters electromyographic muscle reaction time and movement time in patients with carpal tunnel syndrome during key turning function. METHOD: A total of 37 female patients with right hand pain ...

Over a 33-year period, 260 patients (< 17 years of age; 119 males, 141 females) from New South Wales, Australia who had peripheral neuropathies confirmed by nerve biopsy, were studied. Of these, 50 infants presented with symptoms or signs of neuropathy under 1 year of age: including 24 patients with ...

BACKGROUND: Brachioradial pruritus (BRP) is a localized pruritus of the dorsolateral aspect of the arm. BRP is an enigmatic condition with a controversial cause; some authors consider BRP to be a photodermatosis whereas other authors attribute BRP to compression of cervical nerve roots. OBJECTIVE: We sought to investigate the presence ...

BACKGROUND: Celiac disease (CD) is a chronic inflammatory enteropathy resulting from sensitivity to ingested gluten. Neurologic complications are estimated to occur in 10% of affected patients, with ataxia and peripheral neuropathy being the most common problems. The incidence and clinical presentation of patients with CD-associated peripheral neuropathy have not previously ...

OBJECTIVE: The aim of this study was to report a series of Japanese patients with neuropathic symptoms following HCV infection. PATIENTS AND METHODS: Fifteen patients with neuropathic symptoms and HCV infection were studied retrospectively (neuropathy group). We evaluated clinical and electrophysiologic findings. As a control group, we investigated prospectively 11 ...

Partial motor conduction block, an electrophysiological hallmark of demyelination, helps to identify acquired demyelinating neuropathies but its electrophysiological detection can be difficult. We report a technique that may be helpful in this regard. Twenty-five patients with partial motor conduction block secondary to acquired demyelinating polyneuropathy (ADP), 7 with amyotrophic lateral ...

BACKGROUND: Although the symptoms of unilateral "medically unexplained" or "functional" weakness and sensory disturbance present commonly to neurologists, little is known about their long term prognosis. OBJECTIVE: To determine the long term outcome of functional weakness and sensory disturbance. PATIENTS: A previously assembled cohort of 60 patients seen as inpatients ...

Previous reports have suggested that outcome is worse in the axonal compared with the demyelinating form of Guillain-Barré syndrome (GBS). We performed a retrospective study of 23 children with electrophysiologically confirmed cases of predominant subtypes of GBS to investigate this issue. The patients were classified based on the electrodiagnostic features: ...

OBJECTIVES: A body of evidence shows that coeliac disease is associated with protean manifestations outside the intestine, and neurological disorders are well recognised. However, it remains obscure whether there are signs of clinical or subclinical nervous system involvement even in patients adopting an adequate gluten free diet. The aim of ...

This retrospective analysis was undertaken to determine whether a subset of diabetic patients with demyelinating polyneuropathy were similar to patients with chronic inflammatory demyelinating polyradiculoneuropathy (CIDP). Ten patients meeting the clinical criteria for idiopathic CIDP were compared to nine patients with diabetes and demyelinating polyneuropathy. The diabetic patients with demyelinating ...

To report a new technique for unilateral brow suspension for facial paralysis that is minimally invasive, limits supraciliary scar formation, does not require specialized endoscopic equipment or expertise, and has proved to be equal to direct brow suspension in durability and symmetry. Retrospective survey of a case series of 23 ...

PURPOSE: The purpose of this study was to describe the clinical characteristics of a series of patients presenting with benign trigeminal sensory neuropathy. PATIENTS AND METHODS: We conducted a retrospective analysis of the clinical and pathologic characteristics of 23 patients presenting with facial numbness of unknown etiology. RESULTS: Patients presented ...

Ataxic sensory neuronopathy with Sjögren's syndrome is a devastating neurologic complication for which there is no established treatment. IV immunoglobulin (IVIG) was given to five patients with severe disabilities for an average of 12 years. Four patients showed remarkable improvement, two of whom responded after the first course. The authors ...

Peripheral neuropathy is one of the clinical manifestations of the MELAS (mitochondrial encephalopathy with lactic acidosis and stroke-like episodes) syndrome, but its frequency and phenotypic variability have not been properly characterised. We therefore studied the clinical and electrophysiological features of peripheral neuropathy in 32 patients with the 3243A > G ...

BACKGROUND: Graves' orbitopathy can produce proptosis, compressive optic neuropathy, and extraocular motility abnormalities; symptoms result from an increase in orbital volume due to expansion of intraorbital fat, with or without extraocular muscle involvement. STUDY DESIGN: We conducted a chart review of patients who underwent orbital decompression to treat Graves' orbitopathy. ...

Besides the common distal symmetrical sensory-motor polyneuropathy (DSP) that is often associated with autonomic dysfunction, diabetic patients may develop multifocal sensory-motor deficits (MDN) secondary to roots, plexus and nerve trunk involvement. Nerve ischaemia has been suggested as a common mechanism for the different patterns of diabetic neuropathies, yet the important ...

Guillain-Barré syndrome (GBS) is traditionally considered to be a large-fibre neuropathy. However, the presence of hypo-aesthesia, dysaesthesia and dysautonomia in GBS patients raises the possibility that small-diameter sensory and autonomic nerves may also be affected. To investigate small-fibre neuropathy in GBS, we performed a skin biopsy from the distal leg ...

OBJECTIVE: The study goal was to evaluate the association among laryngopharyngeal sensory deficits, pharyngeal motor function, and the prevalence of aspiration with thin liquids. STUDY DESIGN AND SETTING: We conducted a prospective study of 204 consecutive patients undergoing flexible endoscopic evaluation of swallowing with sensory testing and an assessment of ...

A 57-year-old female patient with widespread chronic plaque psoriasis and a 32-year-old male patient with severe oral lichen planus are reported, who developed sensory symptoms in the extremities 3 and 4 months after the onset of oral acitretin therapy, respectively. Both patients showed clinical and electrophysiological evidence of a sensory ...

OBJECTIVE: The pathophysiology and treatment of facial nerve paralysis associated with acute otitis media are still under debate. The objective of this study was to review treatment strategies and extent of recovery in adult patients with the aim of defining a standard treatment protocol for this rare pathologic condition. STUDY ...

To clarify the factors contributing to patient satisfaction with facial movement after the classic hypoglossal-facial nerve anastomosis, we examined 46 such patients who consented to an interview and video-recording. No correlation was seen between the physician's evaluation of returned function (according to Yanagihara's 40-point scale and the grading system of ...

Large number of people from 9 out of 18 districts of West Bengal, India are endemically exposed to arsenic contaminated groundwater due to drinking of tubewell water containing arsenic level above World Health Organization's maximum permissible limit of 50 microg/L. From our ongoing studies on neurological involvement in patients of ...

We examined 29 patients with chronic progressive ganglionopathy of different etiology. Neurophysiological abnormalities were dominated by a widespread decrease in sensory nerve action potential amplitudes, which involved both upper and lower limb nerves, even in patients with asymmetrical or patchy clinical presentation. This impairment of sensory nerve conduction, reflecting a ...

Sometimes before signs of lung tumor, peripheral nerve involvement with sensory neuropathy tell us about lung cancer. This sensory neuropathy often accompany with oat cell carcinoma of lung. The initial symptoms are numbness or paresthesic in a limb and over a period of days or weeks symptoms became bilateral and ...

OBJECTIVE: To determine the value of subcutaneous fat aspiration in patients with sensorimotor peripheral neuropathy. PATIENTS AND METHODS: We retrospectively reviewed the medical records of all patients undergoing subcutaneous fat aspiration for suspected amyloidosis from January 1, 1994, through December 31,1999. We classified patients undergoing subcutaneous fat aspiration due to ...

BACKGROUND: Anticipating the prospect of specific treatment, we studied a large group of Australians with Fabry's disease. AIMS: We aimed to: (i) document the clinical features of Fabry's disease in Australian patients, (ii) test the hypothesis that clinical features vary with specific mutation and blood group and (iii) assess small-fibre ...