Skeletal muscle diseases
Made by: Mahmoud Bassiony Abdallah
Definition
• Skeletal muscle diseases or myopathies are disorders
with structural changes or functional impairment of
muscles.
• Diagnosis of myopathies is based upon clinical
features of patients and investigations.
Classification
• Acquired myopathies
 Inflammatory myopathies
 Endocrine myopathies
 Toxic or drug-induced myopathies
• Hereditary myopathies
• Muscular dystrophies
• Congenital myopathies
• Metabolic myopathies
• Mitochondrial myopathies
Inflammatory myopathies
• Largest group of acquired and potentially treatable
causes of skeletal muscle weakness .
 Inclusion body myositis(IBM
 Polymyositis (PM)
 Dermatomyositis (DM)
 Non-specific myositis (NSM)
 Immune-mediated necrotizing myopathy (IMNM)
Cross section of normal skeletal muscle
Epimysium
perimysium
LM picture of PM,DM and IBM
Rimmed vacuoles
Muscular Dystrophies(MD)
• Group of inherited myopathies characterized by
progressive muscle weakness and wasting.
• Heart and other organs can also be affected.
• Subdivided on the basis of mode of inheritance, age
at onset, distribution, rate of progression and
prognosis.
• 9 major types
Classification of muscular dystrophies
• Sex-linked:
 Duchene muscular dystrophy
 Becker’s muscular dystrophy
 Emery-dreifuss muscular dystrophy
• Autosomal recessive:
 Limb girdle muscular dystrophy
 Fascioscapulohumeral dystrophy
• Autosomal dominant:
 Oculopharyngeal muscular dystrophy
• Myotonic dystrophy
• Distal myopathy
• Congenital muscular dystrophy
LM picture of DMD,BMD,EDMD,MMD and FSHD
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Skeletal muscles diseases

  • 1.
    Skeletal muscle diseases Madeby: Mahmoud Bassiony Abdallah
  • 2.
    Definition • Skeletal musclediseases or myopathies are disorders with structural changes or functional impairment of muscles. • Diagnosis of myopathies is based upon clinical features of patients and investigations.
  • 3.
    Classification • Acquired myopathies Inflammatory myopathies  Endocrine myopathies  Toxic or drug-induced myopathies • Hereditary myopathies • Muscular dystrophies • Congenital myopathies • Metabolic myopathies • Mitochondrial myopathies
  • 4.
    Inflammatory myopathies • Largestgroup of acquired and potentially treatable causes of skeletal muscle weakness .  Inclusion body myositis(IBM  Polymyositis (PM)  Dermatomyositis (DM)  Non-specific myositis (NSM)  Immune-mediated necrotizing myopathy (IMNM)
  • 5.
    Cross section ofnormal skeletal muscle Epimysium perimysium
  • 6.
    LM picture ofPM,DM and IBM Rimmed vacuoles
  • 7.
    Muscular Dystrophies(MD) • Groupof inherited myopathies characterized by progressive muscle weakness and wasting. • Heart and other organs can also be affected. • Subdivided on the basis of mode of inheritance, age at onset, distribution, rate of progression and prognosis. • 9 major types
  • 8.
    Classification of musculardystrophies • Sex-linked:  Duchene muscular dystrophy  Becker’s muscular dystrophy  Emery-dreifuss muscular dystrophy • Autosomal recessive:  Limb girdle muscular dystrophy  Fascioscapulohumeral dystrophy • Autosomal dominant:  Oculopharyngeal muscular dystrophy • Myotonic dystrophy • Distal myopathy • Congenital muscular dystrophy
  • 9.
    LM picture ofDMD,BMD,EDMD,MMD and FSHD
  • 10.