A RARE CASE OF DYSFERLINOPATHY – LIMB GIRDLE MUSCULAR DYSTROPHY TYPE 2B

Author:

Majumder Buddhadeb1,Tiwari Pradeep2,Chandraka Santwana3,Moulik Nivedita4

Affiliation:

1. Junior Resident, Dept Of General Medicine D Y Patil Medical College and Hospital, Nerul, Navi Mumba

2. Consultant Neurologist D Y Patil Medical College and Hospital, Nerul, Navi Mumbai

3. Professor and HOU, Dept Of General Medicin D Y Patil Medical College and Hospital, Nerul, Navi Mumbai

4. Professor and HOD, Dept Of General Medicine. D Y Patil Medical College and Hospital, Nerul, Navi Mumbai

Abstract

A 49 years old male presented with complaints of difficulty in breathing and swallowing since 1 month. Patient had a normal childhood till 7 years of age when he started developing bilateral lower limb weakness causing recurrent fall which progressed gradually over time and since 39 years of age he was unable to stand from squatting position without support and since 43 years of age he was not able to walk even with support.

Publisher

World Wide Journals

Subject

Polymers and Plastics,Chemical Engineering (miscellaneous),General Engineering,General Materials Science,Electrical and Electronic Engineering,Materials Chemistry,Polymers and Plastics,Biomedical Engineering,Renewable Energy, Sustainability and the Environment,General Chemistry,Electronic, Optical and Magnetic Materials,Materials Chemistry,Polymers and Plastics,Materials Chemistry,Polymers and Plastics,Ceramics and Composites,Materials Chemistry,Polymers and Plastics,General Chemistry,Polymers and Plastics,General Chemical Engineering,General Chemistry,General Engineering,Polymers and Plastics,Organic Chemistry

Reference6 articles.

1. Bradley's Neurology in Clinical Practice , 7e

2. Harrison's Principles of Internal Medicine, 20e

3. Bushby KM. Invited review. Making sense of the limb-girdle muscular dystrophies.

4. Cohn RD, Campbell KP. Molecular basis of muscular dystrophies.

5. Bushby KM, Beckman JS. Report of the 30th and 3lst ENMC International Workshop: the limb-girdle muscular dystrophies and proposal for a new nomenclature.

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