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Muscular dystrophies
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,

Kyphoscoliosis, weakening of respiratory
muscles complicates

Cardiac muscle

Lab; CK, EMG

Biopsy: inflammation, central nuclear
regeneration, hypercontraction ( type II),
segmental necrosis, grouped necrosis
Becker

Less common and severe

Weakness and hypertrophy of same
muscles

5 – 45 years

Reduced dystrophin
Emery - dreifuss
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
Scapuloperoneal

Neck,shoulders, upper arms, anterior
tibial, peroneal

Desmin gene

Middle adult life

Bilateral foot drop

Areflexia, distal sensory loss
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
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
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

Myopathology: long rows of central
sarcolemmal nuclei, sarcoplasmic
masses, CK

EMG; myotonia
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

3 – 4 weeks

Eosinophilia

Serum antibodies

Moderate rise in ck

Muscle biopsy - confirmation

Thiabendazole, prednisone
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

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TEST BANK For An Introduction to Brain and Behavior, 7th Edition by Bryan Kol...
 

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