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Introduction:Major categories of endocrine myopathy include those associated with: Adrenal dysfunction (as in Cushing's disease or steroid myopathy); thyroid dysfunction (as in myxedema coma or thyrotoxic myopathy); vitamin D deficiency; parathyroid dysfunction; and pituitary dysfunction. Steroid myopathy is the most common endocrine myopathy.Objective:To study the etiology, varied presentations, and outcome after therapy of patients with endocrine myopathies.Materials and Methods:Myopathy was evaluated by the standard clinical procedures: Detailed clinical history, manual muscle strength testing, and creatine phosphokinase (CPK). Endocrine disorders were diagnosed as per clinical features and biochemical parameters. The treatment was given to patients as per underlying endocrine disease. Myopathy was assessed before and after treatment.Results:Out of the 37 patients who were diagnosed with endocrine myopathies, thyroid dysfunction was the most common cause (17 cases), followed by vitamin D deficiency in nine, adrenal dysfunction in six, parathyroid dysfunction in three, and pituitary dysfunction in two. Some patients had atypical presentation (repeated falls in one, tongue fasciculations in one, neck weakness in five, one with ptosis and facial weakness, asymmetrical onset in one, and calf hypertrophy in one. The serum creatine kinase (CK) concentration did not correlate with muscle weakness. Following the treatment regimen which was specific for a given myopathy, 26 patients recovered fully.Conclusion:We found varied clinical presentations of endocrine myopathies. All the patients with neuromuscular complaints should be investigated for endocrine causes because significant number of them recovers fully with specific treatment.

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Introduction:Moyamoya disease is a chronic progressive cerebrovascular disorder, characterized by stenosis or occlusion of bilateral internal carotid arteries (ICAs), anterior cerebral arteries (ACAs) and middle cerebral arteries (MCAs), accompanied by a collateral network of vessels formed at the base of the brain. Ischemia and intracranial hemorrhage are the common typical manifestations. However moyamoya disease has been associated with atypical presentations like headache, seizures and involuntary movements. Although frequently reported from Asian countries like Japan, China and Korea, only few studies reported on clinical manifestations of moyamoya disease from India.Objectives:To study the varied presentations of moyamoya disease in a tertiary care hospital of north-east India.Material and Methods:Relevant investigations were done to rule out other causes of moyamoya syndrome.Results:We report 6 cases of moyamoya disease with varied presentations from a tertiary care referral government hospital. Case 1, 2 and 6 presented with alternating hemiparesis. Case 3 had amaurosis fugax. Case 4 had history suggestive of ischemic stroke and presented with hemichorea. Case 4 had focal seizure as the only manifestation. Cases 4 and 5 notably had stenosis of posterior cerebral artery (PCA) in addition to stenosis of bilateral ICAs, ACAs and MCAs.Conclusion:Owing to its low incidence in India, moyamoya disease is easily overlooked as a possible diagnosis. However, because of its progressive nature, it is imperative to diagnose this disease early and offer surgical treatment to the patients.

<p class="abstract"><strong>Background:</strong> The objective was <span lang="EN-IN">to evaluate the clinicoetiological pattern and pharmacotherapy practices of new onset vertigo in India. </span></p><p class="abstract"><strong>Methods:</strong> <span lang="EN-IN">This multicentre, prospective, registry was conducted in adult patients across 37 centres. Enrolled patients were followed at week 1, month 1 and 3 to assess clinicoetiological characteristics, prescribed pharmacotherapy, safety and effectiveness of treatment.  </span></p><p class="abstract"><strong>Results:</strong> <span lang="EN-IN">Of the 1520 patients enrolled, 1428 (93.95%) completed the study. The mean (SD) age was 50.2 (±15.37) years and 53.2% were women. Of 202 patients reporting co-morbidities, 55.4% had cardiovascular disease and 38.6% had diabetes mellitus. Peripheral causes were predominant in majority (74.3%); benign paroxysmal positional vertigo (BPPV) being the most frequent (67.58%). Migraine affected 68.9% (80/116) patients, .as the central cause. Betahistine (74.6%) and prochlorperazine (21.75%) were the top two drugs of choice irrespective of origin, preferred by all treating specialists. Both the drugs significantly prevented recurrence by week 1 (prochlorperazine: 76.6%; betahistine: 64.2%) (p&lt;0.001) and over 3 months. A lower daily dose of betahistine (15.6±5.26 mg) was preferred. Almost half complained of nausea and vomiting; prochlorperazine significantly reduced recurrence of both within a week (p&lt;0.001). The treatments were well-tolerated with no reported adverse drug reactions. </span></p><p class="abstract"><strong>Conclusions:</strong> <span lang="EN-IN">The study demonstrates vestibular vertigo, BPPV to be the dominant type in Indian patients with new onset vertigo. Betahistine and prochlorperazine top the physicians’ preference list, with equal benefits in preventing recurrence. Prochlorperazine has an additional antinausea and antiemetic property, thereby may improve patient satisfaction. Prescription of a lower dose of betahistine calls for the need to sensitize physicians.</span></p>

Duchenne muscular dystrophy (DMD) is an X-linked recessive disorder that affects 1 in 3,500 males and is caused by mutations in the dystrophin gene. In this paper, we have reported DNA analysis of DMD patients by multiplex polymerase chain reaction (PCR) from various states of northeast India. Of the 69 clinically suspected patients of DMD, deletion was detected by multiplex PCR in 49 (71%) patients. Majority of the deletions (42/49, 85.7%) were located at distal hot spot region that encompasses exons 44-55 and 14.3% of the deletions were located at the proximal hot spot region (exons 2-19). In this study population, the deletion rate was 71% and was more frequent in the distal end exon.

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