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1.  Multipoint incremental motor unit number estimation versus amyotrophic lateral sclerosis functional rating scale and the medical research council sum score as an outcome measure in amyotrophic lateral sclerosis 
Monitoring the disease progression in amyotrophic lateral sclerosis (ALS) is a challenge due to different rates of progression between patients. Besides clinical methods to monitor disease progression, such as the ALS functional rating scale (ALSFRS) and the medical research council (MRC) sum score, quantitative methods like motor unit number estimation (MUNE) are of interest.
The objective of the present study is to evaluate the rate of progression in ALS using multipoint incremental MUNE and to compare MUNE, ALSFRS and MRC sum score at baseline and at 6 months for progression of the disease.
Materials and Methods:
Multipoint incremental MUNE using median nerve, ALS-FRS and MRC sum score was carried out in 29 ALS patients at baseline and then at 6 months.
Of the 29 ALS patients studied, the mean MUNE at baseline was 21.80 (standard deviation [SD]: 19.46, range 4-73), 15.9 in the spinal onset group (SD: 14.60) and 30.16 (SD: 22.89) in the bulbar onset group. Spinal onset patients had 74.02% of baseline MUNE value while bulbar onset patients had only 24.74% baseline value MUNE at 6 months follow-up (Unpaired t-test, P = 0.001). ALSFRS and MRC sum score showed statistically significant decline (P < 0.001) at 6 months follow-up. MUNE had the highest sensitivity for progression of the disease when compared to the ALS FRS and MRC sum score.
Multipoint incremental MUNE is a valuable tool for outcome measure in ALS and other diseases characterized by motor unit loss. The rate of decline of multipoint incremental MUNE is more sensitive than that of MRC sum score and ALSFRS-R, when expressed as the percentage change from baseline.
PMCID: PMC4162024  PMID: 25221407
Amyotrophic lateral sclerosis functional rating scale; amyotrophic lateral sclerosis; compound muscle action potential; medical research council sum score; motor unit estimation; single motor unit action potential amplitude
2.  Hypertrophic pachymeningitis in a patient with Takayasu arteritis: One more association? 
Hypertrophic pachymeningitis (HP) is a rare chronic inflammatory disease of the dura mater, described in association with various infections, systemic vasculitides such as Wegener's granulomatosis and giant cell arteritis. However, HP in association with Takayasu arteritis (TA) has not been described. We report a young woman who presented with headache, seizures, and right third and fourth cranial neuropathy. Magnetic resonance imaging of the brain showed HP in bifrontal and right temporal region extending to cavernous sinus. She was also found to have systemic hypertension, stenosis of left subclavian, and left renal artery with narrowing of abdominal aorta, satisfying the diagnostic criteria for TA. A detailed evaluation for secondary causes of HP failed to reveal an alternative etiology. This report describes an unusual association of HP in a patient with TA, also emphasizing that seizures and cranial neuropathy may further expand the spectrum of neurological manifestations in patients with TA.
PMCID: PMC3299075  PMID: 22412277
Cranial pachymeningitis; cranial nerve palsy; Hypertrophic pachymeningitis; large vessel vasculitis; Takayasu arteritis
3.  Kinaesthetic ipsilateral and crossed extensor plantar response: A new way to elicit upgoing toe sign (Babinski response)? 
We describe a phenomenon of “kinaesthetic extensor plantar response” in advanced pyramidal dysfunction, an interesting observation noted in a patient with dorsal myelopathy. A 44-year-old woman presented with one-year history of gradually progressive weakness and stiffness of both lower limbs along with urge incontinence of urine. Examination showed spontaneous elicitation of extensor plantar response while assessing the tone by rolling method as well as on noxious stimulation of the thigh. Magnetic resonance imaging (MRI) of the dorsal spine and digital subtraction angiography showed the presence of spinal dural arteriovenous fistula causing myelopathy. This case exemplifies the fact that in advanced pyramidal dysfunction, not only the receptive field of Babinski reflex may extend to the leg or thigh, but may also integrate with other modalities of stimulation, such as the rolling movement. The possible underlying pathophysiology of such a phenomenon is discussed.
PMCID: PMC3200044  PMID: 22028534
Babinski sign; kinaesthetic extensor plantar sign; kinaesthetic upgoing toe sign; upper motor neuron lesion
4.  Clinical, electrophysiologic, and histopathologic profile, and outcome in idiopathic inflammatory myositis: An analysis of 68 cases 
To study the electroclinical and histopathologic profile of idiopathic inflammatory myositis (IIM) with reference to prognosis and survival rate.
Materials and Methods:
Diagnosis of IIM was based on the Bohan and Peter criteria. Patients who improved and those whose condition worsened or who expired due to IIM per se at last follow-up were classified to have favorable and poor outcomes, respectively. Fisher’s exact test was used for univariate analysis of prognostic factors.
The study cohort consisted of consecutive 68 patients with IIM. The mean age at diagnosis was 36.5 years and females constituted 71%. Of these patients, 62% had definite IIM, 49% had polymyositis, 20% had dermatomyositis, and 29% had overlap syndrome. The mean follow-up period was 5.4 years. Prednisolone alone was used in 55 (80%), and azathioprine (1–3 mg/kg/day) alone in 12 (17.6%) as the initial treatment. Relapse of IIM with drug withdrawal was seen in 15 patients (22%); 70% had favorable outcome and 16% had expired. The treatment delay of ≤6 months (P = 0.001), absence of cardiac or lung involvement (P < 0.001), and positive biopsy (P = 0.033) were predictive of a favorable prognosis in the univariate analysis. In multivariate analysis, only the duration of illness of ≤6 months (P = 0.008) and the absence of cardiac or lung involvement (P = 0.001) predicted the favorable outcome at last follow-up. Cumulative survival rate was 95% at 1 year, 86% at the 5th year, and 80% at the 10th year.
Approximately, two-thirds of the patients showed good electroclinical and histopathologic correlations and an equal number improved with treatment. The treatment delay (≥6 months), presence of cardiac or pulmonary involvements, and negative muscle biopsy are bad prognostic factors.
PMCID: PMC3021927  PMID: 21264132
Final outcome; myositis; prognosis; survival rate
5.  Repetitive compound muscle action potentials in electrophysiological diagnosis of congenital myasthenic syndromes: A case report and review of literature 
Congenital myasthenic syndromes (CMSs) are a heterogeneous group of disorders, characterized by dysfunction of neuromuscular junction (NMJ) transmission. These syndromes are genetically inherited and are present since birth. Some have characteristic clinical or electrodiagnostic features but in many cases determination of the specific form requires genetic studies or specialized morphological and electrophysiological studies on muscle tissue. We report a case of a 4-year-old boy with progressive ptosis and limitation of ocular movements who was diagnosed as slow-channel CMS based on the characteristic electrodiagnostic features. Repetitive compound muscle action potentials (R-CMAPs) were recorded after single nerve stimulus, with decremental response after repetitive trains performed at 3 Hz. CMSs are at times clinically difficult to distinguish from acquired myasthenia. The characteristic clinical and electrodiagnostic features help in the diagnosis and enable rational therapy. In this article we discuss the characteristics of synaptic R-CMAPs.
PMCID: PMC2924514  PMID: 20814500
Congenital myasthenic syndromes; slow-channel syndrome; repetitive CMAPs
6.  Muscle channelopathies and electrophysiological approach 
Myotonic syndromes and periodic paralyses are rare disorders of skeletal muscle characterized mainly by muscle stiffness or episodic attacks of weakness. Familial forms are caused by mutation in genes coding for skeletal muscle voltage ionic channels. Familial periodic paralysis and nondystrophic myotonias are disorders of skeletal muscle excitability caused by mutations in genes coding for voltage-gated ion channels. These diseases are characterized by episodic failure of motor activity due to muscle weakness (paralysis) or stiffness (myotonia). Clinical studies have identified two forms of periodic paralyses: hypokalemic periodic paralysis (hypoKPP) and hyperkalemic periodic paralysis (hyperKPP), based on changes in serum potassium levels during the attacks, and three distinct forms of myotonias: paramyotonia congenita (PC), potassium-aggravated myotonia (PAM), and myotonia congenita (MC). PC and PAM have been linked to missense mutations in the SCN4A gene, which encodes α subunit of the voltage-gated sodium channel, whereas MC is caused by mutations in the chloride channel gene (CLCN1). Exercise is known to trigger, aggravate, or relieve symptoms. Therefore, exercise can be used as a functional test in electromyography to improve the diagnosis of these muscle disorders. Abnormal changes in the compound muscle action potential can be disclosed using different exercise tests. Five electromyographic (EMG) patterns (I-V) that may be used in clinical practice as guides for molecular diagnosis are discussed.
PMCID: PMC2781140  PMID: 19966974
Channelopathy; electromyographic; ion channel; myotonia; periodic paralysis

Results 1-6 (6)