In this slide I'll share about the some knowledge of Myopathy, it's type and Mainly focus on DMD. Physiotherapy intervention mainly include the counciling and also supportive devices.

1. MYOPATHIES

2. • A MYOPATHY IS A MUSCLE DISEASE UNRELATED
TO ANY DISORDER OF INNERVATION OR
NEUROMUSCULAR JUNCTION. THESE
CONDITIONS HAVE WIDELY VARYING
ETIOLOGIES, INCLUDING CONGENITAL OR
INHERITED, IDIOPATHIC, INFECTIOUS,
METABOLIC, INFLAMMATORY, ENDOCRINE, AND
DRUG-INDUCED OR TOXIC.
• MYOPATHY IS DEFINED AS A SERUM CK LEVEL 10
TIMES THE UPPER LIMIT OF NORMAL WITH OR

4. • MYOPATHIES PRESENT AS PURE MOTOR
SYNDROMES WITHOUT ANY DISTURBANCE OF
SENSORY OR AUTONOMIC FUNCTION.
• IN MOST MYOPATHIES, SYMPTOMS TEND TO BE
BILATERAL AND AFFECT PROXIMAL MUSCLES
PREFERENTIALLY. PATIENTS USUALLY COMPLAIN
OF DIFFICULTY RISING FROM CHAIRS, GOING UP
AND DOWN STAIRS, OR REACHING WITH THEIR
ARMS.
• MUSCLE CELL NEED CK FOR THE ENERGY .
WHEN MUSCLE GET DAMAGE IT RELEASE CK

5. TYPES
THERE ARE FOUR MAIN CATEGORIES OF
INHERITED MUSCLE DISEASES ARE
MUSCULAR DYSTROPHIES
CONGENITAL MYOPATHIES
MUSCLE ION-CHANNEL DISORDERS
METABOLIC MYOPATHIES

6. MUSCULAR DYSTROPHY
• MUSCULAR DYSTROPHY IS A GROUP OF
DISEASES THAT CAUSE PROGRESSIVE
WEAKNESS AND LOSS OF MUSCLE MASS. IN
MUSCULAR DYSTROPHY, ABNORMAL GENES
(MUTATIONS) INTERFERE WITH THE PRODUCTION
OF PROTEINS NEEDED TO FORM HEALTHY
MUSCLE.

7. • MUSCULAR DYSTROPHY CAN BE CAUSED BY
MUTATIONS IN NUMEROUS GENES AND CAN BE
TRANSFERRED IN AN X-LINKED, AUTOSOMAL
DOMINANT, OR AUTOSOMAL RECESSIVE
FASHION. CHANGES IN THE X-LINKED GENE DMD,
WHICH ENCODES DYSTROPHIN, IS THE MOST
FREQUENT CAUSE OF MUSCULAR DYSTROPHY.

8. TYPES OF MUSCULAR DYSTROPHY
1) X-LINKED – DMD
BMD
2) AUTOSOMAL RECESSIVE – LIMB GIRDLE
PELVIC FEMORAL
SCAPULOHUMERAL
• 3) AUTOSOMAL DOMINANT – FACIOSCAPULOHUMERA
MYOTONIC
LATE ONSET DELAY
OCCULOPHARYANGEAL

9. DUCHENE MUSCULAR DYSTROPHY
• CAUSED BY A MUTATION OF THE DYSTROPHIN
GENE, LOCATED ON THE SMALL ARM (P) OF THE
X CHROMOSOME AT THE XP21 POSITION.
• FEMALE DUCHENE MUSCULAR DYSTROPHY
RESULTS FROM AN ERROR IN FEMALE SOMATIC
CELLS WHEREBY ONE X-CHROMOSOME
BECOMES INACTIVATED AT AN EARLY STAGE,
CREATING A MOSAIC REPRESENTATION OF
HETEROZYGOUS X-LINKED GENES.

10. • THIS CONDITION GENERALLY IS SUFFICIENT TO
PROTECT FEMALE HETEROZYGOTES FROM X-LINKED
DISORDERS THAT AFFECT MALES. HOWEVER, X-
INACTIVATION IN THE FEMALE CARRIER OF AN X-
AUTOSOME TRANSLOCATION CAN SOMETIMES CREATE
A LETHAL GENETIC IMBALANCE IN HALF OF THE BODY'S
CELLS, CAUSING THOSE CELLS TO DIE. THE RESULT IS
THAT THE SAME X-CHROMOSOME EXPRESSES IN EVERY
CELL, AND IF THAT CHROMOSOME CARRIES A DISEASE
ALLELE, THE INDIVIDUAL CAN EXPRESS THE X-LINKED
DISEASE LIKE A MALE, WHICH EXPLAINS SOME FEMALE
CASES OF DUCHENE MUSCULAR DYSTROPHY.

12. EPIDEMIOLOGY
• PREVALENCE (GENERAL POPULATION): 4.78 PER
100,000.[
• FREQUENCY (GENERAL POPULATION): 13 TO 33
PER 100,000.
• FREQUENCY (MALES): 1 PER 3,500.

13. PATHOPHYSIOLOGY
• DYSTROPHIN PROTEIN – IMPORTANT FOR THE MAINTAIN THE MEMBRANE
INTEGRITY.
WHEN IT GET DESTRUCT , PERMEABILITY OF MEMBRANE
GET ALTER.
RESULTING LEAKAGE OF MEMBRANE.
CALCIUM ION CATALYST INCREASE REACTION
INCREASE ACTIVITY OF PROTEINASE ENZYME.
MUSCLE FIBERS START DESTROYING
MUSCLE GET WEAK.

17. WHAT HAPPENED IN DMD
MOST COMMONLY AFFECTED MUSCLES
GRACILES, SEMIMEMBRANOSUS, SEMITENDINOSUS,
AND SARTORIUS
FEET – EQUINOVARUS DEFORMITY.
THE PELVIS CAN TILT.
MAY BE CONTRACTURES THROUGHOUT THE BODY
SPINAL DEFORMITIES MAY PRODUCE LORDOSIS OR
SCOLIOSIS
THE EYE CAN EXHIBIT CATARACTS AND BILATERAL

18. SIGN AND SYMPTOMS
• CONTRACTURES
• DELAYED MOTOR MILESTONES
• EXPRESSIONLESS FACES
• FRACTURES
• GAIT INSTABILITY
• GOWER'S SIGN
• MUSCLE WASTING
• PSEUDO HYPERTROPHY
• PROXIMAL MUSCLE WEAKNESS
• SCOLIOSIS
• TOE WALKING

19. • COGNITIVE DYSFUNCTION
• HYPERSOMNIA
• SEIZURES
• VISUAL DISTURBANCES
• BLADDER INSTABILITY
• CATARACTS
• FRONTAL BALDNESS
• GONADAL ATROPHY AND HYPOGONADISM
• INSULIN RESISTANCE
• CHEST DEFORMITY
• RECURRENT PULMONARY INFECTIONS
• RESPIRATORY INSUFFICIENCY
• SLEEP APNEA

20. INVESTIGATION
• CREATINE KINASE (CK, CPK) AND CREATINE KINASE ISOENZYMES (CK-MB & CK-
MM)
• LACTATE DEHYDROGENASE (LDH)
• URINALYSIS (UA)
• EMG
• CT
• CHROMOSOMAL ANALYSIS
• GENETIC TESTING
• IMMUNOCYTOCHEMISTRY
• MUSCLE BIOPSY
• WESTERN BLOT - ABNORMALITIES ON THE QUANTITY AND MOLECULAR

21. TREATMENT
MEDICAL INTERVENTION
• ANTI-ARRHYTHMIC
• ANTI-EPILEPTIC
• NON-STEROIDAL ANTI-INFLAMMATORY DRUGS (NSAIDS)
• STEROIDS
SURGICAL INTERVENTION
• DEFIBRILLATOR OR A CARDIAC PACEMAKER
• CONTRACTURE RELEASE
• SHOULDER SURGERY
• SPINAL CORRECTION

22. CONSERVATIVE THERAPIES
• SUPPORTIVE PHYSIOTHERAPY
• SUPPORTIVE BRACING
• SUPPORTIVE COUNSELING
• GENETIC COUNSELING

27. Thank you