WHAT IS MUSCULAR DYSTROPHY TYPES FEATURES DIAGNOSIS MANAGEMENT

1. MUSCULAR
DYSTROPHY
DR.ANUSREE.K
KANNUR MEDICAL
COLLEGE

3. NEUROPATHY MYOPATHY
FLACCID FLACCID
DISTAL > PROXIMAL PROXIMAL > DIATAL
DIFFICULTY IN
GRIPPING FOOTWEAR,
OPENING BOTTLE CAPS
HAIR
CHAIR
STAIR
DTR:ABSENT DTR:N/
SENSORY ABNORMALITIES NO SENSORY ABNORMALITIES
CK:N/ CK: 5 FOLD INCREASE

4. PRIMARY
MYOPATHY
GENETIC BASIS
PROGRESSIVE
CAUSE
DEGENERTION
AND DEATH
OF MUSCLES

5. DYSTROPHIN
Xp21
FRAME SHIFT
DYSTROPHIN DEFICIENCY
BEFORE 5 YEARS
WHEEL CHAIR CONFINEMENT ,12 yrs
INFRAME MUTATION
ABNORMAL BUT PARTLY FUNCTIONAL
DYSTROPHIN
ADOLESCENT/ADULT
DUCHENNE MUSCULAR DYSTROPHY BECKER MUSCULAR DYSTROPHY
DYSTROPHIN
Xp21
XR-MALES XR-MALES
WHEEL CHAIR CONFINEMENT ,12 yrs

6. CALF MUSCLE HYPERTROPHY CALF MUSCLE HYPERTROPHY
GOWER SIGN
CARDIOMYOPATHY
GOWER SIGN
VALLEY SIGN VALLEY SIGN
CARDIOMYOPATHY
INTELLECTUAL DISABILITY(SOME) NO INTELLECTUAL DISABILITY
CK PEAK: 3-8 YEARS CK PEAK: LATE 2nd AND EARLY 3rd DECADE
DUCHENNE MUSCULAR DYSTROPHY BECKER MUSCULAR DYSTROPHY

7. MILD HYPOTONIA
LATE FIRST SIGN OF WEAKNESS:POOR HEAD CONTROL IN INFANCY
LATERR CHILDHOOD: TRANSVERSE/HORIZONTAL SMILE
HIP GIRDLE WEAKNESS: 2ND YEAR
TODDLER: LORDOTIC POSTURE WHEN STANDING
(COMPENSATE FOR GLUTEAL WEAKNESS)

9. VALLEY SIGN

10. LORDOTIC POSTURE

11. TRANSVERSE OR HORIZONTAL SMILE

14. TREATMENT
SUPPORTIVE
STEROIDS
ETEPLIRSEN- Oligonucleotide
2016 FDA APPROVED(DMD)
13%

15. EMERY- DREIFUSS MUSCULAR DYSTROPHY
SCAPULOPERONEAL
SCAPULOHUMERAL
X-LINKED RECESSIVE
Xq28
5 AND 15 YEARS
NO PSEUDOHYPERTROPHY
CONTRACTURES OF ELBOWS AND ANKLES DEVELOP EARLY
NO FACIAL WEAKNESS
NORMAL INTELLECTUAL FUNCTION
CAUSE OF DEATH: DILATED CARDIOMYOPATHY
CARDIAC ARRHYTHMIA - STROKE
UL:PROXIMAL MUSCLES
LL:DISTAL MUSCLES
EMERIN

16. DIAGNOSIS
MUSCLE BIOPSY-IMMUNOREACTIVITY-EMERIN
DEFICIENCY
GENETIC TESTING
CARDIAC EVALUATION
TREATMENT
SUPPORTIVE
SPECIAL ATTENTIONTO CARDIAC CONDUCTION
DEFFECTS
MEDICATIONS
PACEMAKER
IMPLANTABLE CARDIOVERTER-DEFIBRILLATORS

17. MYOTONIC MUSCULAR DYSTROPHY
STEINERT DISEASE
DYSFUNCTION IN MULTIPLE ORGAN SYSTEMS
AD
DISTAL DISTRIBUTION OF MUSCLE WASTING

18. STRIATED MUSCLES
SMOOTH MUSCLES OF ALIMENTARY
TRACT AND UTERUS
ALTERED CARDIAC FUNCTION
ENDOCRINOPATHIES
IMMUNOLOGIC DEFICIENCIES
CATARACT
DYSMORPHIC FACIES
INCREASED RISK OF MALIGNANCIES
INTELLECTUAL IMPAIRMENT

19. FRONTAL BALDNESS
SCALLOPED CONCAVE
TEMPORALIS
INVERTED ‘V’ SHAPED
UPPER LIP
THIN CHEEKS
HATCHET FACIES

20. FLATTENED THENAR AND HYPOTHENAR EMINENCES ATROPHIED DORSAL INTEROSSEI

21. THIN AND ATROPHIED TONGUE CYLINDRICAL NECK

22. MYOTONIA
PERCUSSION MYOTONIA
GRIP MYOTONIA

23. FIR TREE CATARACT

24. SPEECH-SLURRED
SWALLOWING DIFFICULTIES-ASPIRATION PNEUMONIA
EOM-OPHTHALMOPLEGIA
GIT
SLOW GASTRIC
EMPTYING
POOR PERISTALSIS
CONSTIPATION
ENCOPRESIS
ABNORMAL UTERINE CONTRACTION DURING LABOUR
CARDIAC
CONDUCTION
ABNORMALITIES
ARRHYTHMIAS
ENDOCRINE
HYPOTHYROIDISM
HYPOGONADISM
DM
LOW IgG

25. DIAGNOSIS
PRIMARY DIAGNOSTIC TEST-
DNA ANALYSIS-CTG/CCTG
REPEATS
MUSCLE BIOPSY

26. TREATMENT
PHENYTOIN
MEXILETINE
CARDIAC PACEMAKER
ANKLE-FOOT ORTHOSES
NON INVASIVE RESPIRATORY SUPPORT

27. LIMB GIRDLE MUSCULAR DYSTROPHY
 MULTIPLE INHERITANCE
 MALE/FEMALE
 HIP AND SHOULDER GIRDLE
 PROXIMAL > DISTAL
 CALF MUSCLE
HYPERTROPHY
ANKLE CONTRACTURES
 LATE CHILDHOOD
 WHEEL CHAIR CONFINEMENT- 30 YEARS

28. HAIR
CHAIR
STAIR

29. DIAGNOSIS
EMG
MUSCLE BIOPSY
TREATMENT
PHYSIOTHERAPY
SPLINTAGE

30. FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY
LANDOUZY-DEJERINE DISEASEAD
FACE
INABILITY TO CLOSE EYES
COMPLETELY IN SLEEP
MOUTH:ROUND AND PUCKERED
SHOULDER GIRDLE
SCAPULAR WINGING
FLATTENING OF DELTOID
BICEPS & TRICEPS: WEAK AND WASTED
GOWERS SIGN
TRENDELENBURG GAIT
ANTERIOR TIBIAL AND PERONEAL MUSCLES-FOOT DROP
COATS DISEASE(RETINAL VASCULOPATHY)
SN HEARING LOSS

31. SHOULDER GIRDLE MUSCLE
WINGING OF SCAPULA

32. FACE
INABILITY TO CLOSE EYES COMPLETELY IN SLEEP
MOUTH:ROUND AND PUCKERED

33. FOOT DROP
HIGH STEPPING GAIT

34. DIAGNOSIS
CLINICAL
SPECIFIC CONFIRMATION-MOLECULAR GENETIC DIAGNOSIS
MUSCLE BIOPSY- EXTENSIVE PROLIFERATION OF CONNECTIVE
TISSUE BETWEEN MUSCLE FIBERS
- HYPERTROPHIC AND ATROPHIC FIBERS
- SCATTERED DEGENERATING AND
REGENERATING FIBERS
INFLAMMATORY TYPE- LYMPHOCYTES IN FASCICLES
EMG

35. TREATMENT
 EXERCISE OF FACIAL MUSCLES
 RECONSTRUCTIVE SURGERIES

36. SURGICAL WIRING OF SCAPULA TO THORACIC WALL

37. BRACES SPLINT

38. MILWAUKEE BRACE BOSTON BRACES

39. FACIOSCAPULOHUMERAL MD MYOTONIA DYSTROPHICA
AD AD
FACE MUSCLES
DORSIFLEXORS OF FOOT
FACE MUSCLES
DORSIFLEXORS OF FOOT
NO MYOTONIA MYOTONIA PRESENT
WINGING OF SCAPULA SUSTAINED GRASP
PERCUSSION MYOTONIANO CARDIAC INVOLVEMENT
CONDUCTION ABNORMALITIESCOATS DISEASE
SN HEARING LOSS
FRONTAL BALDNESS
HATCHET FACIES
HYPOGONADISM
GYNAECOMASTIA
CATARACT:FIR TREE
IQ:

40. OCULO PHARYNGEAL MYOTONIC DYSTROPHY
EYE: PTOSIS,DIPLOPIA
PHARYNX:DYSPHAGIA
PROXIMAL > DISTAL

41. BMD LGMD
PROXIMAL > DISTAL
GOWERS SIGN
XLR MULTIPLE INHERITANCE
M/FMALES
CALF HYPERTROPHY MAY OR MAY NOT BE PRESENT
PROXIMAL > DISTAL
GOWERS SIGN

42. WEAKNESS
PROXIMAL>DISTAL
FLACCIDITY
SPASTICITY
DISTAL>PROXIMAL
AGE OF ONSET
BEFORE 5 YEARS ADOLESCENT/ADULT
DUCHENNE
MUSCULAR
DYSTROPHY
BECKER
MUSCULAR
DYSTROPHY
MYOTONIC DYSTROPHY
UL:PROXIMAL
LL:DISTAL
EMERY DREIFUS MD
CONFINEMENT TO
WHEEL CHAIR
AFTER 15 YEARS
CARDIOMYOPATHY
YES NO
LGMD
OCULOPHARYNGEAL MD
OCCULAR
PHARYNGEAL
SENSORY INVOLVEMENT YES
NO
NEUROPATHY
MYOPATHY