By:

MR: SHAIKH MOHD ATHAR ABDUL QUDDUS

MAHATMA GANDHI VIDYAMANDIR’S

PHARMACY COLLEGE PANCHAVATI, NASHIK- 422003.

2014-2015

A REVIEW ON MUSCULAR

DYSTROPHY

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CONTENT

1. Introduction

2. Sign And Symptoms

3. Clinical Stages of Muscular Dystrophy

4. Epidemiology

5. Types

6. Etiology

7. Animal Models

8. Diagnosis Of Muscular Dystrophy

9. Pharmaceutical Approach

10. Complication and Their Management

11. Case Study

12. Future Scope

13. Conclusion

14. References

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INTRODUCTION

The term muscular dystrophy refers to a group of

inherited muscle-destroying diseases that cause

progressive degeneration of skeletal muscle. [1]

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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]

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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]

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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. [1]

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TYPES

A. Duchenne (most common) and

Becker

B. Emery-Dreifuss

C. Limb-girdle,

D. Facioscapulohumeral,

E. Distal

F. Oculopharyngeal.[4]

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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. [2]

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ANIMAL MODELS

MOUSE MODEL:mdx mouse(X-chromosome-linked muscular

dystrophy)

CANINE MODEL(Golden retriever (GRMD) German shorthaired

pointers (GSHPMD) [3]

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DIAGNOSIS OF MUSCULAR

DYSTROPHY

Family history

Blood test

Electromyography

Muscle biopsy

Histopathology

DNA test

Gene sequencing

Magnetic Resonance Imaging[3]

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PHARMACOLOGICAL APPROACH

Drug treatment

Gene therapy

Stem Cell Therapy

Physical and Occupational Therapy

Psychological, Orthopedic, Respiratory and Cardiovascular Management

Rehabilitation

Ongoing clinical trials of various new therapies for muscular

dystrophy. [3]

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COMPLICATION AND THEIR

MANAGMENT

Scoliosis and Contractures

Pulmonary Complications

Cardiac Complications

Obesity. [3,5]

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CASE STUDY

Duchenne Muscular Dystrophy

A case of 11 year old male, who complained of gradually

progressive bilateral lower limb weakness since 5 years.

Clinical Improvements seen After Stem Cell Therapy:

Stamina and endurance improved

Psychologically was more confident alert and responsive

He was able to walk independently with KAFO [Knee

Ankle Foot Orthosis].

Following muscles showed improved strength

Hip, knee, ankle, shoulder, abdominals. [3]

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FUTURE SCOPE

Experiments on animal models

Gene replacement therapy

Gene repair strategies.[6,7]

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CONCLUSION

Very rare and harmful disease, only caused by genetic

defect

DNA fingerprints of patient muscle

Gene or stem-cell therapy

However, the cure is not present till now, an effective

management and treatment can give some relief to patient

for some time.

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REFRENCES

1) Tortora Gerard J. and Derrickson Bryan, “Principles Of Anatomy AndPhysiology”, Twelfth Edition, 2008, John Wiley & Sons Publication, pg. no. 331.

2) wikipedia.org/wiki/Muscular dystrophy

3) Sharma Alok, “Stem Cell Therapy & Other Recent Advances in MuscularDystrophy”, 2011, Neurogen Brain and Spine Institute publication, pg. no. 1, 48-51.

4) Emery E H Alan, “The Muscular Dystrophies”, Seminar, 2002, Volume 359,Lancet publishing group, pg. no. 687-689.

5) Chambers Leigh “A Home Exercise Book Physiotherapy Management forDuchenne Muscular Dystrophy”, Muscular Dystrophy Campaign publication,2009, pg. no 2-6.

6) Hermans A., Pinto Y.M. , Merkies I.S.J., Smulders D., Crijns H.J., Faber C.G.“Hereditary Muscular Dystrophies And The Heart”, Elsevier, 2010, Elsevierpublication , pg. no. 1-14.

7) Allamand Valérie and Campbell Kevin P., “Animal models for musculardystrophy: valuable tools for the development of therapies” Human MolecularGenetics, 2000, Vol. 9, No. 16, pg. no 1-9.

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Thank You……

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