THREE CASE SERIES INVOLVING PROGRESIVE MOTOR DEFICIT

Bogdan Pana,Alina Anghel,Ioan Buraga,Iuliana Nicola-Antoniu

doi:10.37897/rjn.2016.4.7

Abstract

The muscular dystrophies are a group of inherited, non-inflammatory disorders, consisting of progressive muscle wasting, without peripheral or central nerve involvement. We present a series of three cases involving progressive motor deficit and their different evolutions. The first case is about a 57 year old female patient, without a significant family medical history, presenting for progressive motor deficit involving the shoulder and pelvic muscles, started at the age of 20 year old, when she was diagnosed with a sporadic form of limb-girdle muscular dystrophy. The second case is about a 27 year old male, diagnosed with muscular dystrophy at the age of 15. The third case is about a 43 year old male admitted for frequent falls and weakness of the limbs, mainly distal, started 10 years ago. He was diagnosed with myotonic dystrophy. Although there is still no treatment for muscular dystrophies, the pathology is under investigation in clinical trials.

Highlights

The muscular dystrophies are a group of inherited, non-inflamatory disorders consisting of progresive muscle wasting, without perripheral or central nerve involvement
We present a series of three cases involving progresive motor deficit and their different evolutions
We have to take into consideration the diagnosis of muscular dystrophy even in patients without a family history of MD, in up to one third of the cases the gene involved being subject to a sudden abnormal change (5)

Summary

THREE CASE SERIES INVOLVING PROGRESIVE MOTOR DEFICIT

Bogdan Pana[1], Alina Anghel[1], Iuliana Nicola-Antoniu[1], Ioan Buraga1,2 1Department of Neurology, “Colentina” Clinical Hospital, Bucharest, Romania 2Department of Neurology,“Carol Davila” University of Medicine and Pharmacy, Bucharest, Romania

INTRODUCTION

CASE PRESENTATIONS

Findings

DISCUSSION AND CONCLUSIONS