Publications by authors named "Bhagyadhan Patel"

Article Synopsis
  • Rare disorders include about 7,500 different conditions that are challenging to diagnose due to a lack of specialized healthcare, testing facilities, and treatment options, particularly in countries like India with diverse population groups.
  • This study examined a cohort of 3,294 patients with 305 identified rare genetic diseases, primarily affecting the neuromuscular and neurodevelopmental systems, as well as inborn errors of metabolism.
  • The findings revealed that the most common diseases were Gaucher disease in the IEM category, and Duchenne muscular dystrophy and trinucleotide repeat expansion disorders in the NMND group, highlighting the need for more focused genetic research and healthcare resources in India.
View Article and Find Full Text PDF

Introduction/aims: Hyperexcitable peripheral nerve disorders (HPNDs) are rare. Although their clinical and laboratory features have been well studied, information on treatment and follow-up is limited. The aim of this study is to explore the long-term clinical, investigative, and therapeutic profile of patients with acquired HPNDs.

View Article and Find Full Text PDF

Background And Aims: A wide variety of neurological diseases result in clinical and/or radiological enlargement of nerves, roots and plexuses. With the advancement in techniques and use of magnetic resonance neurography (MRN), aided by electrophysiology, proximal segments of the lower motor neuron (LMN) can be well studied. The relative merits of investigative modalities have not been well defined and comprehensive information on this subject is sparse.

View Article and Find Full Text PDF

Introduction: Chronic immune polyradiculopathies (sensory, motor, and mixed) are uncommon.

Methods: In this single-center, retrospective study, the inclusion criteria for participants were progressive sensory ataxia and/or areflexic limb weakness; tibial somatosensory evoked potential (SSEP) abnormalities of the N22 and P40 potentials with normal sensory and motor nerve conduction studies or root involvement, according to magnetic resonance imaging (MRI); and albuminocytological dissociation.

Results: Eight patients were included in our study.

View Article and Find Full Text PDF

Aim: This questionnaire-based national survey is aimed at understanding the patterns of practice of various aspects of central nervous system (CNS) tuberculosis (TB) among neurologists.

Settings And Design: Neurology department of a tertiary medical college.

Materials And Methods: A questionnaire was sent through email to all practicing neurologists in India.

View Article and Find Full Text PDF
Article Synopsis
  • * LGMDs, which cause progressive weakness in hip and shoulder areas, can be inherited either autosomal dominant (LGMD1) or autosomal recessive (LGMD2), with varying prevalence based on ethnicity and geographic region.
  • * Clinical features like upper girdle weakness, respiratory involvement, and specific signs aid in identifying subtypes, while further tests such as serum creatine kinase and genetic studies support diagnosis.
View Article and Find Full Text PDF

Background: Charcot-Marie-Tooth (CMT) disease is clinically and genetically heterogeneous. There are no published series describing clinical, electrophysiological, and genetic information on CMT from the Indian subcontinent. Magnetic resonance imaging (MRI) neurography technique provides useful information about the plexus and roots and can be employed in patients with CMT.

View Article and Find Full Text PDF

Objective: Myotonic dystrophy type 1 (DM1) is the most common myotonic disorder. Molecular genetic testing of the Dystrophia Myotonica-Protein Kinase DMPK gene to detect expansion of CTG repeats is confirmatory. TP-PCR (Triplet Primed-Polymerase Chain Reaction) is rapid and effective screening for the CTG repeat expansions in myotonic dystrophy.

View Article and Find Full Text PDF

A 23-year-old male patient presented with cognitive decline and seizures. Examination revealed Chvostek's and Trousseau's signs. Investigations revealed hypocalcaemia, hyperphosphatemia and normal intact parathyroid hormone levels.

View Article and Find Full Text PDF

Introduction: Immune-mediated demyelinating radiculopathies restricted to proximal sensory or motor roots are uncommon.

Methods: We report the clinical, electrophysiological, biochemical, and radiological features in 2 patients with chronic immune sensorimotor polyradiculopathy (CISMP).

Results: The patients presented with sensory ataxia, weakness of the lower limbs, and areflexia.

View Article and Find Full Text PDF

Background: Dynamic changes in cervical spine during flexion is a proposed mechanism for Hirayama disease [HD], a localized form of anterior horn cell disorder. Apparent shortening of dura as compared to vertebral column leading to dural shift on flexion is considered to be the primary mechanism in this hypothesis. Whether this disproportion is a result of short dura or longer cervical segment is not known and neck length has not been studied in HD.

View Article and Find Full Text PDF