Primary muscle disease Commonest is Duchene muscular dystrophy (DMD) Presence in early childhood Genetic disease Absence or mutation of gene responsible for production of dystrophine Short arm of X chromosome band 1 of region 2 (XP21) Older age group - Becker’s autosomal MUSCULAR DYSTROPHY

Sarcolemmal protein - dystrophine reduced allows entry of calcium ion into cell excess calcium ion in cell activates acid proteases block energy production in mitochondria cell destruction

DMD CLINICAL Born normal Walk later than siblings (18-24 months) Gait normal 3-4yrs abnormality noticed multiple falls notes earlier if sibling has problem Hypertrophy of calf muscles Difficulty in raising from the floor and climbing stairs GOWER’S SIGN All fours - swings arms on knees - climbs on thigh - extends hip - stands

DMD clinical Walk waddle Lumbar lardosis Protruded abdomen Shoulder girdle weakness - 5-6yrs Face - mental subnormality - IQ low Enlarged protruding tongue Wide arched mandible and maxilla Separation of teeth

DMD signs Hypertrophy of muscles - firm rubbery Ext. dig. Brevis, glutei, brachioradialis, deltoid, spinati, forearm muscles, Selective weakness -upper and lower limbs distal muscle stronger than proximal Elbows - flexors weaker than extensors Knees and ankles - extensors weaker than flexors (quads, peronei, solius, tib.ant)

DMD signs Upper limbs - serrati,pectoralis, lat. Dorsi, deltoid, brachealis,biceps, ticeps. Lower limbs - flexors of hip, glutei, quads, adductors, evertors of foot Eyes - weakness of eyelid Neck - flexors Unaffected - ocular muscles, mastication, pharyngeal and sphincters Wasting - later stage UL greater than LL

Hypotonia of shoulder Jerks absent in upper and lower limb Ankle jerk reserved Progress - steady 7-8 years - support to stand 9-11yrs - support for ambulation wheelchair scoliosis contractures 15yrs - bed ridden yrs death - CCF or RF live up to 25-30yrs with better care

Investigations ECG 70-80% show ventricular hypertrophy (R in V1, Q in III, incomplete RBBB, non specific ST-T changes, sinus trachycardia) Increased SGOT,SGPT,LDH5,aldase Serum CPK increased > 10 times in early stages EMG - classical features of myopathy

DMD Management - Detect female carriers Termination of male pregnancies Carriers - DNA probes - 100% accurate Diagnosis in fetus Prevent deformities Prolong ambulation PT exercises Swimming Prevent contractures - active stretching Splints at night lying prone Surgery for contractures Myoblast transfer YOGA Steroids Ayurveda