LGMD WEAKNESS PATTERN.pptx by sms medical college jaipur

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1. Approach to LGMD type

2. Approach to muscle disorders History: positive symptoms-stiffness, cramps, contracture, myalgia,muscle hypertrophy Negative symptoms:weakness,fatigue,exercise intolerance,muscle atrophy Temporal pattern: Acute: periodic paralysis, inflammatory myopathies, electrolyte imbalance, metabolic myopathies, toxic etiology Subacute: Chronic:

3. Constant/episodic: Monophasic/relapsing: Age at onset: Progressive/static Weakness pattern Triggering events: during or after exercise , after brief exercise or prolonged exercise, after exercise followed by rest or after high carbohydrate meal (periodic paralysis), relieved by exercise, use of drugs / exposure to toxin

4. D/D of limb girdle pattern weakness 1. muscular dystrophy: LGMD, DMD/BMD 2. congenital myopathies 3. congenital muscular dystrophies: 4. myasthenic syndromes: 5.Inflammatory myopathies:except inclusion body myositis 6. metabolic myopathies with fixed weakness: periodic paralysis 7.endocrinal, mitochondrial, metabolic myopathies 8. toxic myopathies:

5. WEAKNESS PATTERN HIP EXTENSOR AND HIP ADDUCTORS + KNEE FLEXOR EDF CALPAINOPATHY(LGMD2A)

6. WEAKNESS PATTERN HIP EXTENSOR AND HIP ADDUCTORS + KNEE EXTENSOR PLUS ANKLE PALNTER FLEXOR+PROXIMAL UPPER LIMBS EDEP DYSFERLINOPATHY(LGMD2B)

7. WEAKNESS PATTERN PROXIMAL UPPER LIMBS PLUS PROXIMAL LOWER LIMBS + SCAPULAR WINGING , CALF HYPERTROPHY AND CONTARCTURE SARCOGLYCANOPATHY (LGMD2C-2F) (HIP ADDUCTION AND KNEE FLEXION MORE AFFECTED)

8. WEAKNESS PATTERN HIP FLEXOR, HIP ADDUCTOR + SCAPULAR WINGING , CALF HYPERTROPHY FDS FUKUTINOPATHY (LGMD2I)

9. WEAKNESS PATTERN QUADRICEPS + BICEPS + ARRYTHEMIA ANOCTAMINOPATHY (LGMD2L)

10. WEAKNESS PATTERN PROXIMAL MUSCLE WEAKNESS ,TRUNCAL WEAKNESS + FLEXION CONTRACURE OF DIP, PIP, WRIST , ELBOW , ANKLE + DISTAL JOINT HYPERLAXITY BETHLAM’S myopathy

11. WEAKNESS PATTERN SCAPULOPERONEAL WEAKNESS AND UPPER ARM WEAKNESS + CONTRACURE OF ELBOW, NECK ,ANKLE AND PARASPINAL MUSCLE + CARDIAC INVOLVEMENT EMERY DREIFUSS MUSCULAR DYSTROPHY(LGMD1B)

12. WEAKNESS PATTERN FACIAL WEAKNESS AND SHOULDER MUSCLE WEAKNESS + WEAK WRIST EXTENSOR ALONG WITH STRONG WRIST FLEXOR + HIP FLEXOR AND QUADRICEPS WEAKNESS + ANKLE DORSIFLEXION WEAKNES ALONG WITH ASYMMETRY FSHD

13. Muscle & NMJ causing ptosis & ophthalmoparesis Oculopharyngeal muscular dystrophy Myotonic dystrophy (ptosis) Congenital myopathy- myotubular , nemaline Mitochondrial – PEO Hyperthyroidism & Graves disease NMJ DISORDER- MG LEMS CMS Botulism

14. Muscle disorder causing distal weakness scapuloperoneal syndrome Distal myopathies – welander’s , Nonaka , Miyoshi,Laing , UDD, Myotonic dystrophy Emery dreifuss muscular dystrophy Inclusion body myopathy Debranching myopathy NMJ – CMS (slow channel defect)

15. CONTRACTURES

16. FIRST DECADE Contractures of hip, knee, ankle - DMD

17. CALPAINOPATHY Contractures of ankle, hip, knee, elbow – LGMD 2A

18. SARCOGLYCANOPATHY Ankle contractures – LGMD 2C-2F

19. BETHLEM MYOPATHY Flexor contractures – DIP, PIP, wrist, elbow, ankle + distal joint hypermobility (DIP of fingers + MCP of thumb)

20. OTHERS Emery – Dreifuss muscular dystrophy Collagen related muscular dystrophy (Ullrich’s) LGMD 1A

21. MUSCLE, EYE AND BRAIN DISEASE Congenital alpha dystroglycan related muscular dystrophies FKRP, POMT1, POMT2, Fukutin related mutation Walker-Warburg syndrome – severe manifestations

22. Hip abductor sign – sarcoglycanopathies (hip adduction weakness) Calf head on trophy sign – Miyoshi myopathy (Pradhan) Diamond on quadriceps – dysferlinopathy Valley sign – depression from spinous process of scapula to axilla due to depression between hypertrophy of relatively preserved bulk of infraspinatus and deltoid muscles Polyhill sign – wasting of trapezius, superior angle of scapula, displaced acromioclavicular joint, atrophied proximal deltoid, normal bulk of distal deltoid (extra hill – biceps) Prominent lumps in muscles (bicep lump) – LGMD 2A, LGMD 2B

23. calf head on trophy sign

24. poly hill and extra hill sign in fshd

25. Diamond on quadriceps- dysferlinopathy

26. Hip abductor sign - sarcoglycanopathy