Ahmad can't run

5 years old boy with muscle weakness
1. History Taking
  1. Examination
    1. Investigations
      1. Serum CK test
        High
      2. EMG
        Myopathic changes & no nerve lesions
      3. TFT
        Normal
      4. Muscle biopsy
        Absence of Dystrophin
      5. Pedigree
        X-linked recessive disease
    2. Neurological examination
      1. assess the dermatomes and test for any UMNL \ LMNL
      2. Normal , no sensory loss , no spinal cord abnormality
      3. No focal neurological symptoms
      4. Physical examination
        On inspection
        Pes cavus deformity
        High medial arch of the foot
        what maintain these arches
        Bones of the foot and their shape
        Ligaments
        Muscles and their tendons
        to protect the Neurovascular structures of the foot
        Arteries
        Nerves
        Lordotic posture
        Wadding gait
        Gowers' sign
        Tip toe gait
        On palpation
        Weakness in the muscles of the gluteal & thigh region 4\5
        Tenderness
        Pseudohypertrophy of calf muscles
  2. Onset
    1. Review of systems
      1. Birth History
        consanguinity
        Family history
        past medical history
        No past surgeries
        No used medications
        The uncle died at age of 16 due to repiratory failure
        Not present
        Normal
      2. No heart \ lung or kidney problems
    2. Chronic
    3. No history of trauma
    4. No history of infection
2. Differential Diagnosis
  1. Neuropathy
    1. Stroke
    2. UMNL \ LMNL
      1. --
    3. Herniated disc
    4. MS
    5. Polio \ Gullian- Barre
      1. --
    6. Charcot - Marie tooth disease
      1. --
    7. Spinal muscular atrophy
      1. --
  2. Myopathy
    1. Myositis
      1. Polymyositis
      2. Dermatomyositis
    2. Metabolic disorders
      1. Mitochondrial diseases
      2. Amylotrophic lateral sclerosis
    3. Muscular Dystrophy
      1. Autosomal dominant
        Oculopharyngeal muscular dystrophy
      2. Sex-Linked
        Duchenne muscle dystrophy
        Gene etiology and pathogenesis
        Stages & Prognosis
        Management
        Gene replacement
        Stem cells therapy
        Physiotherapy
        A mutation in the DMD gene ( Xp21) which is responsible for the synthesis of Dystrophin protein
        Dystrophin is a cytoplasmic protein that connects the cytoskeleton of a muscle fiber to the surrounding extracellular matrix
        Lower levels of Dystrophin = loss of protection and mechanical damage to the sarcolemma when eccentric contraction happen
        Calcium goes inside and cytokine outside , then cells death occurs
        <=
        Muscle weakness starts to be noticed especially in the LL and calf muscles try to compensate
        +
        +
        +
        <=
        =>
        =>
        The most common genetic muscular dystrophy , rapidly progressive and affect male mainly
        Becker muscular dystrophy
        Milder form of DMD
        Emery–Dreifuss muscular dystrophy
        50% the male son is affected
        50% a female daughter is carrier
        +
      3. Autosomal Recessive
        Facioscapulohumeral muscular dystrophy
        Limb-girdle muscular dystrophy
      4. +
  3. Pregnancy
  4. Aging
  5. Trauma
    1. --
  6. Thyroid gland dysfunction
    1. --

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Ahmad can't run

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	Created by Samah Kannas about 4 years ago