It is the group of incurable muscle disorders characterized by progressive weakening and wasting of the skeletal or voluntary muscles. The pathologic features include degeneration and loss of muscle fibers, variation in muscles fibers size, phagocytosis and regeneration and replacement of muscle tissue by connective tissue. The common characteristics of MD elevation of muscles enzyme.

1. Muscular Dystrophies
Arpana Bhusal
BNS

2. Introduction
• It is the group of incurable muscle disorders characterized by
progressive weakening and wasting of the skeletal or voluntary
muscles.
• The pathologic features include degeneration and loss of
muscle fibers, variation in muscles fibers size, phagocytosis
and regeneration and replacement of muscle tissue by
connective tissue.
• The common characteristics of MD elevation of muscles
enzyme.

3. Introduction

4. 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.
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5. TYPES
A.Duchenne (most common) and Becker
B. Emery-Dreifuss
C. Limb-girdle
D.Facioscapulohumeral
E. Myotonic Dystrophy
F. Congenital Muscular Dystrophy
.
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6. Contd……
• Duchenne and Becker
-- Duchenne muscular dystrophy (DMD) is caused by a defect in the gene
located on the X chromosome.
-- This gene is responsible for producing a protein called dystrophin, which
normally functions to protect muscle fibers. Without dystrophin, muscles are
broken down by enzymes, which cause degeneration and ultimately
weakness of muscles.
-- DMD is primarily seen in boys and occurs in about 1 of 3500 to 5000
newborn males; it affects girls at a much lower rate. It occurs in all ethnic
groups.

7. Contd……
• EMERY-DREIFUSS MUSCULAR DYSTROPHY
-- Emery-Dreifuss muscular dystrophy (EDMD), also known as
humeroperoneal muscular dystrophy, can be caused by a number of
inheritance patterns. It can affect both boys and girls.
Myotonic dystrophy
-- The most common adult-onset muscular dystrophy. It can affect both
boys and girls.
-- Symptoms typically appear during adolescence or adulthood.
However, in some forms of type 1 myotonic dystrophy, the symptoms
affect newborns or appear during infancy or early childhood.

8. Contd……
• LIMB-GIRDLE MUSCULAR DYSTROPHY
-- It is a group of disorders that have a number of inheritance patterns. It refers
to dystrophies that affect the shoulder girdle (or area surrounding the
shoulder), the pelvic girdle (the area surrounding the hips), or both.
-- Low back pain may be a prominent symptom.
-- The age of onset varies from early childhood to adulthood. The course is
usually slowly progressive.
• FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY
-- It can affect boys and girls & usually progresses slowly, but is extremely
variable in its severity and age of onset.
-- It is usually inherited in an autosomal dominant pattern, which means that a
parent with the disease has a 50 percent chance of passing it to their child.

9. Contd……
• CONGENITAL MUSCULAR DYSTROPHY
-- It refers to a group of muscular dystrophies that are apparent at birth.
-- Symptoms of CMD are usually seen at birth, and include lack of muscle
strength ("floppy baby"), multiple joint contractures (arthrogryposis), and
sometimes eye and brain abnormalities.
-- No definitive treatment is available for CMD.

10. COMMON SIGN AND SYMPTOMS
 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: weakness of the proximal muscles, namely those of the lower
limb. Use their hands and arms to "walk" up their own body from a squatting
position due to lack of hip and thigh muscle strength.
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11. Gowers Sign Gait

12. DIAGNOSIS OF MUSCULAR DYSTROPHY
 Family history
 Blood test
 Electromyography
 Muscle biopsy
 Histopathology
 DNA test
 Gene sequencing
 Magnetic Resonance Imaging
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13. COMPLICATION AND THEIR MANAGMENT
 Scoliosis and Contractures
 Pulmonary Complications
 Cardiac Complications
 Obesity
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14. PHARMACOLOGICAL APPROACH
 Drug treatment
 Gene therapy
 Stem Cell Therapy
 Physical and Occupational Therapy
 Psychological, Orthopedic, Respiratory and Cardiovascular
Management
 Rehabilitation
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15. Thank You……
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