MUSCULAR DYSTROPHY
INTRODUCTION
The term muscular dystrophy refers to a group of inherited
muscle-destroying diseases that cause progressive degeneration of skeletal
muscle.
SIGN
AND SYMPTOMS
Signs
and symptoms vary with every type but some common are
progressive muscular wasting,
drooping eyelids, atrophy,
Scoliosis,
Inability to walk, frequent falls,
limited range of movement,
respiratory difficulty, joint contractures,
cardiomyopathy, arrhythmias,
muscle spasms,
gowers' sign. [2]
CLINICAL
STAGES OF MUSCULAR DYSTROPHY
Stage 1: Early/pre-symptomatic
Stage 2: Early ambulatory (Walking)
Stage 3: Late Ambulatory (going off feet)
Stage 4: Early non-ambulatory
Stage 5: Late non-ambulatory
Stage 6 Palliative Cares / End of Life. [3]
EPIDEMIOLOGY
Duchenne muscular dystrophy is the most common form of MD.
DMD strikes boys almost exclusively. (World wide about 1 in
every 3500 male babies)
Age of onset differs with every type.
TYPES
A.
Duchenne (most common) and Becker
B.
Emery-Dreifuss
C.
Limb-girdle,
D.
Facioscapulohumeral,
E.
Distal
F.
Oculopharyngeal.
ETIOLOGY
Muscular dystrophies are caused by mutations in genes encoding proteins
that are essential for normal muscle function.
The main gene associated is Dystrophin gene.
ANIMAL
MODELS
MOUSE MODEL:mdx mouse(X-chromosome-linked muscular dystrophy)
CANINE MODEL(Golden retriever (GRMD) German shorthaired pointers
(GSHPMD)
DIAGNOSIS
OF MUSCULAR DYSTROPHY
Family history
Blood test
Electromyography
Muscle biopsy
Histopathology
DNA test
Gene sequencing
Magnetic Resonance Imaging
PHARMACOLOGICAL
APPROACH
Drug treatment
Gene therapy
Stem Cell Therapy
Physical and Occupational Therapy
Psychological, Orthopedic, Respiratory and CardiovascularManagement
Rehabilitation
Ongoing clinical trials of various new therapies for muscular dystrophy.
COMPLICATION
AND THEIR MANAGMENT
Scoliosis and Contractures
Pulmonary Complications
Cardiac Complications
Obesity.
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