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Proximal limb girdle syndromes,[object Object],ASHOK VP,[object Object]
Shoulder Girdle-ostoeology,[object Object],[object Object]
Sternum
Ribs 2-7
Clavicle
Humerus,[object Object]
[object Object]
Teres Major
Rotator Cuff
Supraspinatus
Infraspinatus
Teres Minor
Subscapularis
Deltoid,[object Object]
Pelvic girdle,[object Object]
Two pelvic bones (left and right) articulating with the axial skeleton via the sacrum.,[object Object],The pelvic bones are each made up of three bones:,[object Object],Ilium,[object Object],ishium,[object Object],pubis,[object Object],These bones are fused by puberty to form the pelvic bone.,[object Object],The pelvic girdle can only move as a unit (L and R shoulder girdles can move independent of each other,[object Object]
Hip flexors,[object Object],iliopsoas(iliacus, psoas major and minor),[object Object],pectineus,[object Object],rectus femoris,[object Object],sartorius,[object Object],gracilis,[object Object],tensor fasciae latae,[object Object],rectus femoris,[object Object],Hip extensors,[object Object],gluteus maximus,[object Object],biceps femoris,[object Object],semitendinosus,[object Object],semimembranosus,[object Object]
Hip (thigh) abductors,[object Object],gluteus medius,[object Object],gluteus minimus,[object Object],tensor fasciae latae,[object Object],Hip (thigh) adductors,[object Object],adductor brevis,[object Object],adductor longus,[object Object],adductor magnus,[object Object],gracilis,[object Object],pectineus,[object Object]
Hip Internal Rotators,[object Object],Gluteus medius,[object Object],Gluteus minimus,[object Object],semimembranosis,[object Object],semitendinosis,[object Object],Hip External Rotators,[object Object],Adductor magnus		Adductor longus,[object Object],External Rotators		Gluteus maximus,[object Object],Gluteus medius			Sartorius,[object Object],Biceps femoris,[object Object]
Proximal limb girdle syndromes,[object Object],Most common pattern of muscle weakness,[object Object],Predominantly the proximal muscles of legs and arms ,[object Object],Distal muscles are also involved in much lesser extent.,[object Object],Neck flexors and extensors also frequently involved.,[object Object],Seen in most hereditary and acquired myopathies,[object Object]
MRC scale expanded version,[object Object],5    normal power,[object Object],5-   equivocal, barely detectable weakness,[object Object],4+  definite but slight weakness,[object Object],4     able to move against gravity and some resistance,[object Object],4-    capable of minimal resistance,[object Object],3+   capable of transient resistance collapse abruptly,[object Object],3     active movement against gravity,[object Object],3-    able to move against gravity but not throuh full range,[object Object],2     able to move with gravity eliminated,[object Object],1     trace contraction,[object Object],0     no contraction,[object Object]
Causes of proximal limb girdle syndromes,[object Object],Spinal muscular atrophies,[object Object],Muscular dystrophies,[object Object],       Duchenne muscular dystrophy,[object Object],Beckers muscular dystrophy,[object Object],       Limb girdle muscular dystrophy,[object Object],Inflammatory myopathies,[object Object],Polymyositis,[object Object],dermatomyositis,[object Object],       inclusion body myositsis,[object Object],Endocrine myopaties,[object Object]
Diagnosis  based on pattern of inheritance,[object Object],Autosaomal dominant ,[object Object],     FSHD,[object Object],     LGMD type-1,[object Object],Autosomal recessive,[object Object],      LGMD,[object Object],      Metabolic myopathy,[object Object],X-linked,[object Object],      Duchenne ,[object Object],      Becker,[object Object],      Emery Dreifuss,[object Object]
Temporal evolution,[object Object],Duchenne muscular dystrophy usually identified by 3yrs of age,[object Object],Most FSHD and LGMD begins in adolescence or later,[object Object],Dermatositis occurs in children and adults,[object Object],Polymyositis rarely occurs in children but in any decade in adult life,[object Object],Inclusion body myositis occurs most commonly in te elderly.,[object Object],Myopaties with acute or sub acute progression- dermatomyositis and polymyositis,[object Object],Chronic slow progression over years- muscular dystrophies,[object Object],Non progressive weakness – congenital myopaties,[object Object]
Pattern recognition approach to proximal limb girdle syndrome,[object Object]
DystropinopatiesDuchenne'sbecker,[object Object]
Proximal > distal,[object Object],Lower limbs > upper limbs (Scapular relatively spared),[object Object],Quadirceps > hamstrings,[object Object],Tibialis ant. > gastrocnemius , soleus & tibialis post.,[object Object],Biceps & triceps > deltoid,[object Object]
Wrist extensors > wrist flexors,[object Object],Quadirceps > hamstrings,[object Object],Tibialis ant. > gastrocnemius , soleus & tibibialis post.,[object Object],Neck flexors > neck extensors,[object Object],Except for sternocleidomastoids, muscles innervated by cranial nerves are spared,[object Object],Ability to climb stairs> rise from supine>walk,[object Object]
Proximal limb girdle syndromes approach
calf hypertrophy,[object Object]
Valley sign,[object Object],[object Object]
Inferomedial part of infraspinatus muscle is enlarged,[object Object]
hip abduction sign,[object Object],> 90 degree,[object Object]
characteristic wide-based stance is due to striking preservation of hip abductors.,[object Object]
Facioscapulohumeral dystrophy,[object Object],Onset is between 7-27 years,[object Object],Initially face is involved, in particular zygomaticus , orbicularisoculi & orbicularisoris,[object Object],Masseter ,temporalis , extraocular & pharyngeal muscles are spared,[object Object]
Scapular fixators –latissimusdorsi, lower trapezius ,rhomboids & serratus anterior are involved,[object Object],Deltoid is spared,[object Object],Biceps weakness >triceps weakness,[object Object],Forearm muscles are normal,[object Object],POPEYE EFFECT,[object Object]
Polyhill sign,[object Object],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,[object Object]
Inflammatory myopaties,[object Object],polymyositis, dermatomyositis - Proximal > distal. Ocular and facial muscles almost never affected. Symmetrical involvement.,[object Object],IBM - Proximal, distal and quadriceps, asymmetrical involvement.,[object Object]
Distribution of weakness,[object Object],Scapuloperoneal- scapuloperonealdystrophy, emery dreifuss dystrophy, LGMD 1B, LGMD-2A, sarcolycanopathies, LGMD-2I, acid maltase deficiency.,[object Object],Facioscapular- FSHD,[object Object],Distal arm proximal leg weakness involving quadriceps – inclusion body myositis. In addition, weakness is assymetrical.,[object Object],Ptosis and facial weakness with out ophthalmoplegia- FSHD and myotonic dystrophy.,[object Object]
 neck extensor weakness,[object Object]
Myopaties with CHF,[object Object],Muscular dystrophies,[object Object],Duchenne, becker, emery-dreifuss, limb girdle 1A,1B,2C-f, 2, 2I, 2L,[object Object],Inflammatory myopaties,[object Object],Polymyositis,[object Object],Dermatomyositis,[object Object]
Associated with arrhythmia,[object Object],Muscular dystropies,[object Object],Limb irdle- 1B.1E, 2C-F, 2, ,[object Object],Emery dreifuss,[object Object],polymyositis,[object Object]
Myopaties associated with respiratory insufficiency,[object Object],Muscular dystrophies,[object Object],Becker,[object Object],Duchenne,[object Object],Emery dreifuss,[object Object],Limb girdle 2A, 2I,[object Object],Metabolic,[object Object],Acid maltase defficiency,[object Object],Carnitine deficiency,[object Object],Debrancher deficiency,[object Object],Acquired,[object Object],polymyositis,[object Object]
CNS manifestations,[object Object],Lower intellience quotient in patients wit Duchenne dystrophy and congenital muscular dystrophy.,[object Object]
Myopaties affecting both muscle and peripheral nerve,[object Object],Alcohol abuse,[object Object],Amyloidosis,[object Object],Chronic renal failure,[object Object],Collagen vascular disease,[object Object],endocrine disease,[object Object],Inclusion body myositis,[object Object],Laminin A/C mutations,[object Object],Medications,[object Object],Paraneoplastic diseases,[object Object],sarcoidosis,[object Object]
HEPATOMEALY- Acid maltase deficiency, debranchin enzyme deficiency, carnitine deficiency.,[object Object],Musculoskeletal contractures- especially around elbow – emery dreifuss, LGMD 1B, and bethlem myopathy,[object Object]
Myopathy with skin rashes,[object Object],[object Object]
Gottron’s sign - symmetric violaceouserythematous eruption over knuckles
Heliotrope rash - reddish violaceous eruption on upper eyelids +/- edema
Shawl sign – erythematous rash over neck, upper chest and shoulders,[object Object]
                heliotrope rash,[object Object]
Shawl sign,[object Object]
Myopaties with diffuse myalgias,[object Object],Endocrine myopaties-hypothyroidism,[object Object],Inflammatory myopaties,[object Object],X-linked myalgia and cramp,[object Object],Toxic  myopathies (lovastatin, cloroquine, alcohol),[object Object]
Myopathies with muscle stiffness,[object Object],Hypothyroid myopathy,[object Object],hyperkalemic periodic paralysis,[object Object],Myotonic disorders,[object Object]

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Proximal limb girdle syndromes approach