Proximal limb girdle syndromes

1. Proximal limb girdle syndromes ASHOK VP

3. Sternum

4. Ribs 2-7

5. Clavicle

8. Teres Major

9. Rotator Cuff

10. Supraspinatus

11. Infraspinatus

12. Teres Minor

13. Subscapularis

15. Pelvic girdle

16. Two pelvic bones (left and right) articulating with the axial skeleton via the sacrum. The pelvic bones are each made up of three bones: Ilium ishium pubis These bones are fused by puberty to form the pelvic bone. The pelvic girdle can only move as a unit (L and R shoulder girdles can move independent of each other

17. Hip flexors iliopsoas(iliacus, psoas major and minor) pectineus rectus femoris sartorius gracilis tensor fasciae latae rectus femoris Hip extensors gluteus maximus biceps femoris semitendinosus semimembranosus

18. Hip (thigh) abductors gluteus medius gluteus minimus tensor fasciae latae Hip (thigh) adductors adductor brevis adductor longus adductor magnus gracilis pectineus

19. Hip Internal Rotators Gluteus medius Gluteus minimus semimembranosis semitendinosis Hip External Rotators Adductor magnus Adductor longus External Rotators Gluteus maximus Gluteus medius Sartorius Biceps femoris

20. Proximal limb girdle syndromes Most common pattern of muscle weakness Predominantly the proximal muscles of legs and arms Distal muscles are also involved in much lesser extent. Neck flexors and extensors also frequently involved. Seen in most hereditary and acquired myopathies

21. MRC scale expanded version 5 normal power 5- equivocal, barely detectable weakness 4+ definite but slight weakness 4 able to move against gravity and some resistance 4- capable of minimal resistance 3+ capable of transient resistance collapse abruptly 3 active movement against gravity 3- able to move against gravity but not throuh full range 2 able to move with gravity eliminated 1 trace contraction 0 no contraction

22. Causes of proximal limb girdle syndromes Spinal muscular atrophies Muscular dystrophies Duchenne muscular dystrophy Beckers muscular dystrophy Limb girdle muscular dystrophy Inflammatory myopathies Polymyositis dermatomyositis inclusion body myositsis Endocrine myopaties

23. Diagnosis based on pattern of inheritance Autosaomal dominant FSHD LGMD type-1 Autosomal recessive LGMD Metabolic myopathy X-linked Duchenne Becker Emery Dreifuss

24. Temporal evolution Duchenne muscular dystrophy usually identified by 3yrs of age Most FSHD and LGMD begins in adolescence or later Dermatositis occurs in children and adults Polymyositis rarely occurs in children but in any decade in adult life Inclusion body myositis occurs most commonly in te elderly. Myopaties with acute or sub acute progression- dermatomyositis and polymyositis Chronic slow progression over years- muscular dystrophies Non progressive weakness – congenital myopaties

25. Pattern recognition approach to proximal limb girdle syndrome

26. DystropinopatiesDuchenne'sbecker

27. Proximal > distal Lower limbs > upper limbs (Scapular relatively spared) Quadirceps > hamstrings Tibialis ant. > gastrocnemius , soleus & tibialis post. Biceps & triceps > deltoid

28. Wrist extensors > wrist flexors Quadirceps > hamstrings Tibialis ant. > gastrocnemius , soleus & tibibialis post. Neck flexors > neck extensors Except for sternocleidomastoids, muscles innervated by cranial nerves are spared Ability to climb stairs> rise from supine>walk

30. calf hypertrophy

33. hip abduction sign > 90 degree

34. characteristic wide-based stance is due to striking preservation of hip abductors.

35. Facioscapulohumeral dystrophy Onset is between 7-27 years Initially face is involved, in particular zygomaticus , orbicularisoculi & orbicularisoris Masseter ,temporalis , extraocular & pharyngeal muscles are spared

36. Scapular fixators –latissimusdorsi, lower trapezius ,rhomboids & serratus anterior are involved Deltoid is spared Biceps weakness >triceps weakness Forearm muscles are normal POPEYE EFFECT

37. Polyhill sign six "hills" (1) enlarged infraspinatus muscle (2) superior angle of scapula (3) prominence of acromio-clavicular joint due to wasting of trapezius muscle, (4) prominence of infero-lateral part of the deltoid muscle (5) some preserved bulk in the middle of the wasted biceps brachii (6) prominent brachioradialis muscles

38. Inflammatory myopaties polymyositis, dermatomyositis - Proximal > distal. Ocular and facial muscles almost never affected. Symmetrical involvement. IBM - Proximal, distal and quadriceps, asymmetrical involvement.

39. Distribution of weakness Scapuloperoneal- scapuloperonealdystrophy, emery dreifuss dystrophy, LGMD 1B, LGMD-2A, sarcolycanopathies, LGMD-2I, acid maltase deficiency. Facioscapular- FSHD Distal arm proximal leg weakness involving quadriceps – inclusion body myositis. In addition, weakness is assymetrical. Ptosis and facial weakness with out ophthalmoplegia- FSHD and myotonic dystrophy.

40. neck extensor weakness

41. Myopaties with CHF Muscular dystrophies Duchenne, becker, emery-dreifuss, limb girdle 1A,1B,2C-f, 2, 2I, 2L Inflammatory myopaties Polymyositis Dermatomyositis

42. Associated with arrhythmia Muscular dystropies Limb irdle- 1B.1E, 2C-F, 2, Emery dreifuss polymyositis

43. Myopaties associated with respiratory insufficiency Muscular dystrophies Becker Duchenne Emery dreifuss Limb girdle 2A, 2I Metabolic Acid maltase defficiency Carnitine deficiency Debrancher deficiency Acquired polymyositis

44. CNS manifestations Lower intellience quotient in patients wit Duchenne dystrophy and congenital muscular dystrophy.

45. Myopaties affecting both muscle and peripheral nerve Alcohol abuse Amyloidosis Chronic renal failure Collagen vascular disease endocrine disease Inclusion body myositis Laminin A/C mutations Medications Paraneoplastic diseases sarcoidosis

46. HEPATOMEALY- Acid maltase deficiency, debranchin enzyme deficiency, carnitine deficiency. Musculoskeletal contractures- especially around elbow – emery dreifuss, LGMD 1B, and bethlem myopathy

48. Gottron’s sign - symmetric violaceouserythematous eruption over knuckles

49. Heliotrope rash - reddish violaceous eruption on upper eyelids +/- edema

51. heliotrope rash

52. Shawl sign

53. Myopaties with diffuse myalgias Endocrine myopaties-hypothyroidism Inflammatory myopaties X-linked myalgia and cramp Toxic myopathies (lovastatin, cloroquine, alcohol)

54. Myopathies with muscle stiffness Hypothyroid myopathy hyperkalemic periodic paralysis Myotonic disorders

55. Myopathies with muscle contractures Hypothyroid myopathy glycolytic enzyme defects Hypothyroid myopathy Paramytoniacongenita

56. Myopathies with myoglobinuria Familial Sarcoglycanopaties hypokalemic periodic paralysis Metabolic myopaties Duchenne and becker Inflammatory myopaties Acquired causes Drugs and toxins heat stroke NMS Trauma infections

58. 60% of infants with SMA type I are floppy babies at birth. Prolonged cyanosis may be noted at delivery.

59. In some instances, the disease can cause fulminant weakness in the first few days of life. Such severe weakness and early bulbar dysfunction -> mean survival of 5.9 months.

60. Affected children never sit or stand.

62. Pseudohypertrophy of the gastrocnemius muscle, musculoskeletal deformities, and respiratory failure can occur.

64. Slowly progressive proximal weakness. Most can stand and walk but have trouble with motor skills, such as going up and down stairs.

65. Bulbar dysfunction occurs late in the disease.

66. Patients may show evidence of pseudohypertrophy.

68. Characteristic presentation is of a slowly progressive limb girdle weakness and is otherwise called pseudomyopatic SMA.

69. Fasciculations are seen in 75% patients, quadriceps weakness is often prominent.

71. DD of increased CK Myopaties Dystropinopaties(carrier state) drug induced Inflammatory myopaties Metabolic myopaties Muscular dystrophies Nonneuromuscular Hypothyroidism, HYpoparatyroidism Malignant Hyperthermia Medications Race, sex Motor neuron disease ALS Post polio syndrome Neuropathies BS & CIDP

72. Muscle biopsy Tissue can be obtained by either open or closed procedure Muscles that are severely weak (MRC grade 3 or less) should not be biopsied. Muscles recently studied by needle EMG should be avoided; artifacts created by needle insertion. Biopsy should be taken from muscles having grade 4 strength Muscle of choice- upper limb –deltoid, lower limb- vastuslateralis.

74. In dermatomyositis - perifascicular atrophy & expression of immune attack complex