Duchene muscular dystrophy, Becker, Facioscapulohumeral dystrophy, scapuloperoneal, restricted ocular and oculopharyngeal myopathies, myotonic dystrophy, congenital myotonic dystrophy, infectious, idiopathic polymyositis and dermatomyositis

1. Muscular dystrophies

2. Duchene Muscular Dystrophy

Severe generalized,skeletal muscles,
infancy, death by early adult life

X – linked recessive, dystrophin,
membrane fragility

Climbing stairs and arising from floor

Pelvifemoral muscles, shoulder

Pseudohypertrophy of calf, quadriceps,
deltoids

Staddles to stand, waddle gait

Lordosis, protuberant abdomen,

3. 
Kyphoscoliosis, weakening of respiratory
muscles complicates

Cardiac muscle

Lab; CK, EMG

Biopsy: inflammation, central nuclear
regeneration, hypercontraction ( type II),
segmental necrosis, grouped necrosis

7. Becker

Less common and severe

Weakness and hypertrophy of same
muscles

5 – 45 years

Reduced dystrophin

8. Emery - dreifuss

9. Facioscapulohumeral dystrophy

Late childhood or adolescence

Difficulty in lifting arms over head

Winging of scapula, elevated – angels
wing

Bifacial weakness,pursed lips, eyelids
not closed firmly

Popeye effect

Bevor sign; flexing the neck – upward
movement of umblicus

10. Scapuloperoneal

Neck,shoulders, upper arms, anterior
tibial, peroneal

Desmin gene

Middle adult life

Bilateral foot drop

Areflexia, distal sensory loss

11. Restricted ocular and oculopharyngeal
myopathies

Progressive external opthalmoplegia

External occular muscles

Levator muscles – ptosis, hutchinsonian
facies

Kearns – sayre syndrome;
opthalmoplegia, retinitis pigmentosa, short
stature, csf protein

Dysphagia

Blepharoplasty, cutting pharyngeals
mluscle

12. Myotonic dystrophy

Slight mental retardation

Cortical cataract, hypogonadism

Thin, narrow face, temporal atrophy,
drooping eyelids, thin sternomastoid
muscles swan neck, cranial muscle
involvement, frontal baldness

Weak pharyngeal, laryngeal muscles soft
monotonous nasal quality

Distal dystrophies, foot drop

13. Congenital myotonic dystrophy

Mother – myotonia

Drooping eyelid, tented upper lip carp
mouth

Open jaw – hallmark

Difficulty in sucking, swallowing

Bronchial aspiration

Delayed motor and speech development

Mental retardation

14. 
Myopathology: long rows of central
sarcolemmal nuclei, sarcoplasmic
masses, CK

EMG; myotonia

16. Infectious

Trichinosis,toxoplasmosis,cysticercosis,try
panosomiasis,

Undercooked pork – gastroenteritis

Cranial – tongue,masseters, extra occular,
pharyngeal

Swollen and tender musulature

Orbital and facial oedema

Complications – myocarditis - embolism

17. 
3 – 4 weeks

Eosinophilia

Serum antibodies

Moderate rise in ck

Muscle biopsy - confirmation

Thiabendazole, prednisone

18. Idiopathic polymyositis and
dermatomyositis

Proximal limb, girdle muscles

Neck, pharynx and larynx

Weakness of the muscles

Climbing, squatting, kneeling

Lolling of head, dysphagia, dysphonia

DM; heliotropic rash

Children ; pain, fever intermitent,
melana,hematemesis, perforation of
gastrointestinal tract

Flexion contractures and subcutaneous