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• Dystrophy
• Congenital myopathy
• Channelopathies & myotonia
• Metabolic (fatty acid/glycogensis/mitochondrial)
Muscular dystrophy
• Inherited myopathy characterized by
progressive muscles weakness °eneration
&subsequent replacement by fibrous & fatty
connective tissue
• .
Muscular Dystrophy affects muscular
strength and action,
some of which first become obvious in infancy, and
others which develop in adolescence or young
adulthood.
Myotonic Usually 2nd decade Slowly progressive weakness Cardiac conduction defects
May be infancy if of face, shoulder girdle, and Mental impairment
mother affected foot dorsiflexion Cataracts
Frontal baldness
Gonadal atrophy
Duchenne MD
• Incidence: 1/3500 male birth
• 1/3 new mutation
• c/p:as early as 2-3y with delay milestones
• Progressive limb girdle pattern
• Fall 5-6y/difficult climb stair 8y, confined to
wheelchair 12y
DMD: Clinical manifestation
Gower’s sign
DMD: Natural history
• Classification
– Pelvic girdle type
• common
– Scapulohumeral type
• rare
Fascioscapulohumeral muscular dystrophy
Autosomal dominant
• Epidemiology Female > male
• Clinical manifestation
– Age of onset: late childhood/ early adult - No cardiac, CNS involvement
Clinical manifestation
– Muscle weakness ( face, shoulder, upper arm ) Lack of facial mobility
– Incomplete eye closure
– Pouting lips
– Transverse smile
– Absence of eye and forehead wrinkles
• Sparing
– Deltoid
– Distal pectoralis major
– Erector spinae
FSMD: Clinical manifestation
Winging scapula
Markedly decreased shoulder
flexion & abduction
Horizontal clavicles
forward sloping
Rare scoliosis
Congenital muscular dystrophy
– Autosomal recessive
• c/p:
Hypotonia &proximal weakness, arthrogryposis, Stiffness of
joint, Congenital hip dislocation, subluxation
Achillis tendon contracture, talipes equinovarus,Scoliosis
• Two types
• CNS involvement: sever mental retardation ,visual,
seizure ..cerebrocular dysplasia, progressive death by
age 10-12
• No CNS :classic type MRI (hypomyelination), benign
outcome, non progressive
• Muscle biopsy :dystrophy…
Myotonic dystrophy
Autosomal dominant
• Affect : skeletal,cardiac, smooth muscles,
eye,endocrine &brain
• c/p:
hypotonia with subsequent developmental delay
• Reduce muscles bulk, slender body build &long narrow face
• Skeletal abnormalities: high arched palate ,pectus exacavitum, kyphscliosis,
dislocated hip, pes cavus)