Weakness Of Intrinsic Hand Muscles Research Articles

CGG/CCG Repeat Expansions in LOC642361/NUTM2B-AS1 in Thai Patients With Oculopharyngodistal Myopathy.

This study characterizes oculopharyngodistal myopathy in 4 Thai patients from 3 families with CGG/CCG repeat expansion in LOC642361/NUTM2B-AS1. Repeat-primed PCR analyzed CGG/CCG repeat size in LOC642361/NUTM2B-AS1 in 4 Thai patients suspected of oculopharyngodistal myopathy (OPDM). Clinical records were reviewed for clinicopathologic features. All patients exhibited strong somatic instabilities of the expanded CGG/CCG repeats, primarily manifesting as oculopharyngeal weakness. Patient 1 had mild finger extensor and intrinsic hand muscle weakness, and although patient 2 lacked limb weakness, both siblings showed electrophysiologic evidence of distal myopathy, indicative of OPDM. Patient 3, the daughter of a sibling with OPDM reported in 2004, lacked limb weakness or leukoencephalopathy on brain MRI. Patient 4, initially misdiagnosed with refractory myasthenia gravis, had generalized muscle weakness. While initially characterized as oculopharyngeal myopathy with leukoencephalopathy (OPML) in a Japanese family, our study suggests a stronger association between CGG/CCG expansion in LOC642361/NUTM2B-AS1 and oculopharyngodistal myopathy (OPDM) rather than OPML. The variable presence or absence of leukoencephalopathy further supports OPDM as the predominant clinical manifestation linked to CGG/CCG expansion in LOC642361/NUTM2B-AS1.

Chapter 6 - Ulnar neuropathy

Ulnar neuropathy at the elbow is the second most common compressive neuropathy. Less common, although similarly disabling, are ulnar neuropathies above the elbow, at the forearm, and the wrist, which can present with different combinations of intrinsic hand muscle weakness and sensory loss. Electrodiagnostic studies are moderately sensitive in diagnosing ulnar neuropathy, although their ability to localize the site of nerve injury is often limited. Nerve imaging with ultrasound can provide greater localization of ulnar injury and identification of specific anatomical pathology causing nerve entrapment. Specifically, imaging can now reliably distinguish ulnar nerve entrapment under the humero-ulnar arcade (cubital tunnel) from nerve injury at the retro-epicondylar groove. Both these pathologies have historically been diagnosed as either "ulnar neuropathy at the elbow," which is non-specific, or "cubital tunnel syndrome," which is often erroneous. Natural history studies are few and limited, although many cases of mild-moderate ulnar neuropathy at the elbow appear to remit spontaneously. Conservative management, perineural steroid injections, and surgical release have all been studied in treating ulnar neuropathy at the elbow. Despite this, questions remain about the most appropriate management for many patients, which is reflected in the absence of management guidelines.

Utility of split hand index with different motor unit number estimation techniques in ALS

ObjectiveUtility of the split hand index (SI) in amyotrophic lateral sclerosis (ALS) has been reported when using the compound muscle action potential (CMAP) amplitude method (SICMAP amp). A motor unit number index (MUNIX) based SI method (SIMUNIX) was purported to exhibit higher sensitivity. The present study assessed the clinical utility of SI, derived by CMAP amplitude, MUNIX and MScan-MUNE (SIMScanFit-MUNE) methods, in ALS. MethodsSixty-two consecutive patients with neuromuscular symptoms (36 ALS and 26 ALS-mimics) were prospectively recruited. The SI was derived by dividing the product of the CMAP amplitude, MUNIX and MScan-MUNE values recorded over first dorsal interosseous and abductor pollicis brevis by values recorded over abductor digit minimi. ResultsSICMAP amp, SIMUNIX and SIMScanFit-MUNE were significantly reduced in ALS, with SICMAP amp (area under curve (AUC) = 0.801) and SIMScanFit-MUNE (AUC = 0.805) exhibiting greater diagnostic utility than SIMUNIX (AUC = 0.713). SICMAP amp and SIMScanFit-MUNE exhibited significant correlations with clinical measures of functional disability and weakness of intrinsic hand muscles. ConclusionsSI differentiated ALS from mimic disorders, with SICMAP amp and SIMScanFit-MUNE exhibiting greater utility. SignificanceThe split hand index represents could serve as a potential diagnostic biomarker in ALS.

Ultrasound Scanning Protocol in the Assessment of Ulnar Neuropathy at the Elbow.

Ulnar neuropathy at the elbow is commonly encountered in clinical practice and is the second most common entrapment neuropathy. Left untreated, ulnar neuropathy at the elbow can result in significant disability due to loss of dexterity and grip strength secondary to the weakness of intrinsic hand muscles. Precisely localizing a lesion in ulnar neuropathy can be challenging with electrodiagnostic testing alone. Ultrasound is a relatively quick and useful adjunctive diagnostic modality in overcoming this limitation, as an increase in the cross-sectional area (CSA) of the nerve is a common and validated finding in ulnar neuropathies at the elbow. Sonographic assessment of the nerve's echotexture and vascularity can provide additional diagnostic clues. Ultrasound also offers the unique benefit of detecting ulnar nerve subluxation or dislocation out of the retroepicondylar groove during dynamic assessment, although the clinical significance of this is controversial. Finally, ultrasound can also identify structural abnormalities leading to nerve compressions, such as the presence of bony abnormalities, scar tissue, and space-occupying lesions. These findings may influence management strategies and surgical planning. This protocol aims to illustrate the technique of static and dynamic sonographic imaging of the ulnar nerve around the elbow as a complement to electrodiagnostic testing in the assessment of ulnar neuropathy at the elbow.

Differentiation of ulnar neuropathy at the wrist due to ganglion cyst from ulnar neuropathy at the elbow

ObjectiveHere, we aimed to describe the clinical, electrodiagnostic (EDx) and ultrasonographic (US) findings in a series of patients with ulnar neuropathy at the wrist (UNW) due to compression by a ganglion cyst. We also sought features that differentiate UNW from ulnar neuropathy at the elbow (UNE). MethodsWe reviewed electronic medical records of consecutive patients with UNW caused by ganglion cysts. We compared their clinical, EDx and US findings to findings in our previously reported prospective series of UNE patients. ResultsWe identified 10 patients with UNW caused by ganglion cyst compression, who all presented with intrinsic hand muscle weakness and atrophy. Compared to 175 UNE patients they less often complained of paresthesia (60% vs. 98%) and presented less sensory loss in the palm (30% vs. 96%) and little finger (50% vs. 95%). They more often had distal ulnar motor latency recorded from the abductor digiti minimi (ADM)>3.6ms (80% vs. 30%), and denervation activity on needle EMG in the first dorsal interosseous (FDI) compared to ADM (100% vs. 60%). Only 20% of our UNW patients had ulnar nerve swelling at the site of compression on US. ConclusionUNW potentially caused by ganglion cyst should be suspected in patients presenting with intrinsic hand muscle atrophy and weakness, particularly in cases with normal sensation, increased distal ulnar motor latency recorded from ADM and more severe neuropathic changes in FDI compared to ADM muscle.

Relation between prehension strength, dexterity and axonal loss in a Charcot Marie Tooth 1A population

To evaluate the relation between prehension strength, dexterity and axonal loss in a same cohort of CMT1A patients with valid tools. CMT1A is the most common form of hereditary neuropathy. The upper limb impairment creates a weakness of intrinsic hand muscles, an opposition, prehension strength and axonal loss. Patients were recruited from November 2012 to November 2014 by Physicals Rehabilitation Medicine and Neurologicals consultations of Clermont Ferrand's University Hospital. Measures of strength were evaluated in kilograms (kg) by Jamar and Pince Gauge dynamometers, and dexterity by Sollerman and Nine Hole Peg and Jebsen's tests. Thirty-one patients were included. A moderated correlation was find between pinch strength in kg by Pince Gauge, and dexterity by Sollerman (r = 0.52). No correlation was found between axonal loss evaluated by motor action potential of median nerve, handgrip strength, pince strength or dexterity tests. This results mention the complexity of prehension, the balance out by the patients CMT1A of their intrinsic hand muscles weakness, and the interest to detect prematurely this impairment in order to limit the deformities and abnormal postures.

BLADDER INVOLVEMENT IN KENNEDY'S DISEASE: A RARE ASSOCIATION

Kennedy9s disease, or spinal and bulbar muscular atrophy (SBMA), is an inherited X-linked degenerative disorder characterised by progressive proximal limb weakness, bulbar weakness, fasciculation, androgen insensitivity and characteristic electromyography findings. A 44 year old Caucasian police officer presented with asymmetric sensory symptoms of pins and needles in both legs. In addition, he had dysphagia and history suggestive of intrinsic hand muscle weakness and lower urinary tract symptoms (LUTS) for 1 year. He had surgery for bilateral gynaecomastia. His maternal grandfather had been investigated for suspected multiple sclerosis and two brothers had surgery for gynaecomastia. Examination revealed bifacial weakness and bilateral partial ptosis. There were fasciculation in the muscles of the shoulder girdle and upper limb with wasting of the small muscles of the hands bilaterally. In the lower limbs, there was wasting of the quadriceps muscles, clawing of toes and weakness of hip flexion. EMG showed absent left sural sensory potential, fasciculation and evidence of chronic partial denervation in the arms. The diagnosis was confirmed with an abnormal CAG repeat of 44 within the XLBSN gene. EMG of the anal sphincter showed evidence of reinnervation (Large motor units above 6mv). The Sphincter EMG suggests the pathological role of Onufrowicz nucleus (ON). To our knowledge, this is the first reported case of Kennedy9s disease genotype with bladder involvement.

Ulnar neuropathy with prominent proximal Martin-Gruber anastomosis

Martin-Gruber anastomosis (MGA) is the most common nerve anastomosis in the upper extremities and it crosses from the median nerve to the ulnar nerve. Proximal MGA is an under recognized anastomosis between the ulnar and median nerves at or above the elbow and should not be missed during nerve conduction studies. We presented two patients with ulnar neuropathy mimicking findings including numbness and tingling of the 4th and 5th digits and mild weakness of intrinsic hand muscles. However, both cases had an apparently remarkable conduction block between the below- and above-elbow sites that was disproportionate to their clinical findings. To explain this discrepancy, a large MGA was detected with stimulation of the median nerve at the elbow. Thus, proximal MGA should be considered in ulnar neuropathy at the elbow when apparent conduction block or/and discrepancy between clinical and electrodiagnostic findings is found.

Bilateral claw hand: An uncommon presentation of regional Guillain-Barré syndrome

We present an uncommon case of a 38-year-old man presented with bilateral subacute weakness of intrinsic hand muscles, manifesting as bilateral claw-hand, without sensory deficits and absent tendon reflexes in upper arms. Nerve conduction studies showed findings consistent with demyelinating GBS. During the fourth day of hospitalization the patient presented symmetrical distal leg weakness and was treated with intravenous immunoglobulin.

FDG-PET/MRI fusion demonstrating cricoarytenoid muscle hypermetabolism due to contralateral true vocal cord paralysis

BACKGROUNDBilateral vocal cord paralysis is a risk of anterior cervical discoidectomy and fusion. We discuss the mechanism of vocal cord paralysis and the precautions necessary to avoid this catastrophic complication. A rare case of bilateral vocal cord paralysis after anterior cervical discoidectomy and fusion (ACD/F) is reported.CASE DESCRIPTIONThe patient, a 37-year-old male, was paraplegic, had bilateral intrinsic hand muscle weakness and sphincter involvement following a whiplash cervical spinal injury. A C5-C6 ACD/F for traumatic C5-C6 disc prolapse was performed. On the third postoperative day, he developed difficulty in coughing and a husky voice. Otolaryngological evaluation revealed bilateral vocal cord paralysis. He later required a tracheostomy that partially alleviated his major symptoms.CONCLUSIONIn patients undergoing ACD/F, a mandatory preoperative evaluation of the vocal cords should be performed. An appropriate modification in surgical planning should be made if vocal cord palsy is diagnosed preoperatively to prevent bilateral vocal cord paralysis. Proper and judicious use of Cloward retractors is advocated.

Teaching Video Neuro Images : Horner syndrome with Déjérine-Klumpke plexopathy

A 30-year-old man presented with acute left upper extremity weakness and numbness. He had weakness of intrinsic hand muscles and wrist and finger flexion.1 The left finger flexor reflex was absent. He had sensory loss of the medial arm, forearm, and hand, and ipsilateral Horner syndrome.2 Five days previously, he experienced …

The electrodiagnostic characteristics of Glycogen Storage Disease Type III

PurposeGlycogen Storage Disease Type III, also known as debrancher deficiency or Cori disease, is an autosomal recessive disorder recognized for both its hepatic and muscle manifestations. The neuromuscular manifestations of Glycogen Storage Disease Type III are not well characterized. In this study, we attempt to better define the disorder. MethodsThe medical records of 40 patients with Glycogen Storage Disease Type III seen at Duke University during 1990–2009 were reviewed. The medical records of all patients with nerve conduction studies and/or electromyography were examined. ResultsTwelve patients with Glycogen Storage Disease Type III (aged 5–55 years) had undergone nerve conduction studies ± electromyography. Three of these cases are presented in detail. Nine patients had Glycogen Storage Disease Type IIIa, two patients had Glycogen Storage Disease Type IIIb, and the clinical subtype of one patient was unknown. All had nerve conduction studies and of those nerves tested, abnormalities in the median motor response were most common, corresponding to previously described, intrinsic hand muscle weakness. Electromyography was performed in eight patients and myopathic findings were present in six individuals. Abnormal electrodiagnostic findings were more common in older patients. The two patients with Glycogen Storage Disease Type IIIb had electrodiagnostic evidence of nerve involvement with minor myopathic findings. ConclusionsThe neuromuscular manifestations of Glycogen Storage Disease Type III include myopathy and neuropathy and are more likely to occur with increasing age, even in those diagnosed with Glycogen Storage Disease Type IIIb. Intrinsic hand muscle weakness is likely due to a combination of nerve and muscle dysfunction, a finding that may have implications for treatment.

A PATIENT WITH EPISODIC ATAXIA AND PARAMYOTONIA CONGENITA DUE TO MUTATIONS IN KCNA1 AND SCN4A

Channelopathies are mendelian disorders arising from mutations in genes that encode ion channel subunits.1 Mutations in SCN4A, which encodes the α-subunit of the muscle sodium channel Nav1.4, underlie paramyotonia congenita (PMC),2 while mutations in KCNA1, which encodes the potassium channel subunit Kv1.1, cause episodic ataxia type 1 (EA1) and isolated myokymia.3 We describe the clinical, genetic, and functional expression studies in an unusual patient who harbors mutations in both SCN4A and KCNA1 and report that sodium channel dysfunction dominates the phenotype. ### Case history. A 34-year-old woman had a lifelong history of muscle cramps and weakness affecting upper and lower limbs. Symptoms were exacerbated by exercise and cold weather, which induced both muscle stiffness and difficulty releasing her grip. Her father, paternal uncle, and second son are similarly affected. Examination demonstrated weakness of intrinsic hand muscles (Medical Research Council 4/5) with paradoxical myotonia of hand grip and eye closure. Neurophysiology confirmed a diagnosis of PMC, with a cooling test showing a rapid decrement in amplitude and area, which did not recover with rewarming. A McManis test was positive, showing a >40% decrement in compound muscle action potential (CMAP) during exercise with recovery during the prolonged rest period. Unexpectedly, needle EMG demonstrated sustained doublets, triplets, and multiplets interspersed with the myotonic discharges in the right abductor digiti minimi, biceps, tibialis anterior, and thoracic paraspinals (figure A). Because generalized myokymic discharges are not a recognized feature of PMC, this prompted further direct questioning about her symptoms. She reported that since the age of 16, she had experienced brief attacks of slurred speech and unsteadiness lasting seconds to minutes. …

ULNAR NERVE

Objective: To determine the etiology of ulnar nerve compression acrossthe elbow.Design: Retrospective and descriptive. Setting: At AFIRM Rawalpindi. Period: From Jan 2000 to Jan 2004.Material & Methods: 267 cases of Ulnar Nerve Compression at elbow diagnosed after electro-physiological studieswere selected. Most of the patients with a variety of complaints were referred to Rehabilitation Medical Department,Rawalpindi (AFIRM) for diagnostic evaluation (NCS/EMG) and management. Results: Out of 267 patients 210(78.65%)were males and 57(21%) were females. The mean age was 35 yrs (Range 9-67yrs). Most of the patients 180(67.41%)had left sided Ulnar nerve compression at elbow where as 87(32.59%) suffered on Right side. The most commonmode of presentation were paraesthesia 234(88%), pain 166(44%) and weakness of intrinsic hand muscles 104(27%).Electro-physiological evaluation shows prevalence of occupational 121(45%) and traumatic 51(21%) causes.Conclusion: Management of Ulnar never compression must include a comprehensive rehabilitation program thatshould focus on postural correction and workstation modification along with pharmacological and surgical advice

Radiation fibrosis triggers complaints of thoracic outlet syndrome (TOS): MRI/MRA/MRV

Fibrosis and scarring are displayed as intermediate gray signal intensity on MRI obscuring details of landmark anatomy of the chest wall and thorax. Radiation with as little as 1000 rads causes radiation pneumonitis in one week, which progresses to fibrosis and scarring in the area of the radiation port. Patients with a history of radiation for breast cancer and lymphoma display linear fibrosis on chest radiographs. The T1-weighted images on MRI display hazy gray signal intensities obscuring landmark anatomy. The 2D MRA/MRV displays the disruption of the fascial planes and the vascular supply, including the nutrient blood vessels, and confirmed at surgery. These patients present with pain and paresthesias of the upper extremity; headache with or without visual changes; tinnitus; facial, back and leg pain; muscle spasms, and tremors; intrinsic hand muscle weakness, and syncope. Abduction external rotation of the upper extremity enhances the costoclavicular compression of the draining veins of the neck, supraclavicular fossae, lymphatics and neurovascular bundles and triggers these complaints, which correlate with the chest radiographs and the MRI. Bilateral MRI, MRA and MRV display neurovascular compression in these TOS patients without the use of contrast material. Bilateral multiplanar imaging was conducted on a 1.5 Tesla GE Signa LX (Clin. Anat. 1995; 8:–16), with the field of view modified to include the dural sinuses. Patients for this presentation were selected from over 40 patients with radiation fibrosis. Edema occurs early and metasplastic changes of the tissue ensue. Fibrosis and scarring are the result.

Performance-Related Injuries Among Student Musicians at a Specialty Clinic

The purpose of this study was to determine the relative frequency of performance-related injuries in patients age 18 and younger who presented to a specialized performing arts clinic. A total of 314 student musicians age 18 and younger were seen at the specialty clinic between its inception in 1985 and November 2002. Retrospective chart review and analysis of the resulting data were conducted. Information collected included presenting complaint, problem location, and diagnosis. Data were analyzed with respect to gender, instrument played, and ligamentous laxity. The upper extremity was the most common injury location. The lateralization and anatomic location of the injuries were influenced by the instrument played. The most frequent problems were musculoskeletal pain syndrome and excessive muscle tension. Lack of physical conditioning and poor instrumental technique also were commonly noted. Ligamentous laxity of the wrist and fingers was found in a proportion higher than in that of the general population and was related to the number and the type of physical diagnoses made. Laxity was more common in girls. Other diagnoses that were more frequent among female musicians included lack of conditioning, intrinsic hand muscle weakness, and scoliosis. In boys, carpal tunnel syndrome and tendinitis were more common. The findings suggest that young age is not a protective factor against playing-related injuries. Physicians caring for musicians in this age group should have an awareness of the problems and risk factors related to playing musical instruments.

Bilateral vocal cord paralysis after anterior cervical discoidectomy and fusion in a case of whiplash cervical spine injury: a case report

BACKGROUND Bilateral vocal cord paralysis is a risk of anterior cervical discoidectomy and fusion. We discuss the mechanism of vocal cord paralysis and the precautions necessary to avoid this catastrophic complication. A rare case of bilateral vocal cord paralysis after anterior cervical discoidectomy and fusion (ACD/F) is reported. CASE DESCRIPTION The patient, a 37-year-old male, was paraplegic, had bilateral intrinsic hand muscle weakness and sphincter involvement following a whiplash cervical spinal injury. A C5-C6 ACD/F for traumatic C5-C6 disc prolapse was performed. On the third postoperative day, he developed difficulty in coughing and a husky voice. Otolaryngological evaluation revealed bilateral vocal cord paralysis. He later required a tracheostomy that partially alleviated his major symptoms. CONCLUSION In patients undergoing ACD/F, a mandatory preoperative evaluation of the vocal cords should be performed. An appropriate modification in surgical planning should be made if vocal cord palsy is diagnosed preoperatively to prevent bilateral vocal cord paralysis. Proper and judicious use of Cloward retractors is advocated.

Acute brachial neuropathy--electrophysiological study and clinical profile.

Acute brachial neuropathy (ABN) is a rare disease, characterized by an acute or subacute onset of pain followed by weakness of shoulder or arm muscles without trauma or traction injury. So the diagnosis of this clinical entity is not easy. The purpose of this study was to analyze retrospectively the ABN in 14 cases focusing on the clinical profile and to evaluate the effectiveness of electrophysiologic study in diagnosis of ABN with a new result helpful in localizing a brachial plexus disorder. The most helpful electrophysiologic data of ABN in my patients seemed to be abnormalities of low amplitude, abnormal right to left difference of compound motor action potentials (CMAPs) and sensory nerve action potentials (SNAPs) in axillary nerve, ulnar or median nerves. Results of nerve conduction velocity, terminal and F-wave latency were not as useful. But the electromyogram was most helpful in localization of upper or lower plexus lesions and cervical radiculopathy. The most striking clinical feature of ABN was the rapid onset of pain followed by the development of muscle weakness of shoulder girdle after a variable period or within four days. In contrast to other reports, intrinsic hand muscle weakness was observed in 3 cases with sensory changes in ulnar nerve distribution. The cervical radiculopathies (C5-C7 roots) were simultaneously combined with ipsilateral axillary neuropathy in 3 cases. In this study, decreased amplitude, abnormal right to left difference of SNAPs and CMAPs, and neurogenic EMG findings with normal data of NCV, terminal and F-wave latencies suggest that the pathology of ABN might not be a demyelinating process, but axonopathy.

Management of Unilateral Locked Facet of the Cervical Spine

TWENTY-FOUR PATIENTS WITH unilateral cervical locked facets were treated between 1986 and 1990. The primary mechanisms of injury were vehicular accidents (58%) and altercations (38%). The level of unilateral facet dislocation was C5-C6 (41%), C6-C7 (25%), C3-C4 (17%), and C4-C5 (17%). Seventeen (70%) came to the hospital with radiculopathy, five (20%) were normal, and two (10%) had spinal cord injuries. Plain films showed subluxation but no fracture. All patients had a cervical computed tomographic scan. Fracture in addition to facet locking was seen in 12 (50%) of 24 scans: 5 with facet fracture, 4 with facet/laminar fractures, 2 with facet/laminar/body fractures, and 1 foramen transversarium fracture. On the basis of CT findings, closed reduction was thought to be contraindicated in two cases. Five patients (22%) underwent successful closed reductions. Two of the patients with closed reductions were placed in a halo but again had subluxation. Thus, 24 patients underwent surgery for open reduction, posterior spinous process wire fixation, and facet wiring to struts of the iliac crest for bony fusion. The initial surgery was successful in 23 (96%) of 24 patients. One patient experienced subluxation and underwent further surgery for anterior cervical fusion/plating. Two wound infections were treated, and there were no deaths or neurological worsening. At 1 year, all deficits had improved. Of 16 radiculopathies, 3 (19%) had persistent 4/5 weakness, and the rest were normal, including 2 delayed-diagnosis patients who both showed improvement from 2/5 to 5/5 strength within 1 week of surgery. Two spinal cord injuries were a central cord injury with persistent bilateral intrinsic hand muscle weakness and a Brown-Séquard injury, initially 1/5, that improved to 4/5 strength. Persistent neck pain was seen in 4 (17%) of 24 cases. A cervical computed tomographic scan provided information that aided in the diagnosis and management. Our experience, along with a review of the literature, strongly suggests that reduction and internal fixation/bony fusion is most successful for this injury.