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3rd Year - Paediatrics > 19.3. Paediatric Neurology - Neuromuscular Disorder > Flashcards

19.3. Paediatric Neurology - Neuromuscular Disorder Flashcards

1
Q

When should a Neuromuscular Disorder be Suspected?

A
  1. Baby “Floppy” From Birth
  2. Slips from Hands
  3. Paucity of Limb Movements
  4. Alert, but Less Motor Activity
  5. Delayed Motor Milestones
  6. Able to Walk but Frequent Falls
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2
Q

Where, Anatomically, can Neuromuscular Conditions arise?

A
  1. Muscle
  2. Neuromuscular Junction
  3. Nerve
  4. Anterior Horn Cell
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3
Q

What type pf Neuromuscular Condition Arise at the Muscle?

A
  1. Muscular Dystrophies
  2. Myopathies
  3. a) Congenital
  4. b) Inflammatory
  5. Myotonic Syndromes
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4
Q

What are Muscular Dystrophies?

A
  1. Dysfunction of Muscle Proteins

2. Death of Muscle Cells and Tissues

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5
Q

What are Common Muscular Dystrophies?

A
  1. Duchenne Muscular Dystophy - Dystrophinopathy
  2. Becker Muscular Dystrophy - Dystrophinopathy
  3. Limb Girdle Muscular Dystrophy
  4. Fascio-Scapulo-Humeral Dystrophy
    Note - (1.) and (2.) are X-linked
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6
Q

What are the Features of Duchenne Muscular Dystrophy?

A
  1. Xp21 Dystrophin Gene
  2. Delayed Gross Motor Skills
  3. Symmetrical Proximal Weakness:
  4. a) Waddling Gait
  5. b) Calf Hypertrophy
  6. c) Gower’s Sign Positive
  7. Elevated Creatinine Kinase Levels - > 1000
  8. Cardiomyopathy
  9. Respiratory Involvement in Teens
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7
Q

What are Myopathies?

A

Muscle Weakness due to Dysfunction of the Muscle Mass

Note - Characteristic Findings on Muscle Biopsy

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8
Q

What are the Features of Myopathies?

A
  1. Hetereogeneous Causes
  2. Congenital - XR / AD / AR
  3. a) Metabolic - Glycogen Storage / Mitochondrial
  4. b) Acquired - Infection / Drugs or Toxins / Autoimmune
  5. a) Developmental Delay
  6. b) Hypotonia of Variable Degree
  7. c) Proximal and Distal Muscle Weakness
  8. d) CK - Normal to High, but not in Thousands
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9
Q

What are Myotonias?

A

Delayed Relaxation of Skeletal Muscle after Voluntary Contraction / Electrical Stimulation
Note - Channelopathies

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10
Q

What are the Types of Myotonias?

A
  1. Myotonic Dystrophy - Autosomal Dominant
  2. Myotonia Congenita - Autosomal Dominant
  3. Paramyotonia Congenita - Autosomal Dominant / Recessive
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11
Q

What are the Features of Myotonia?

A
  1. Motor Developmental Delay
  2. Infantile Hypotonia and Developmental Delay
  3. Muscle Stiffness and Cramps
  4. Endocrinopathies
  5. Cardiac Dysrrhythmias
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12
Q

What is the Difference between Neuropathy vs Myopathy in terms of:

  1. Site of Weakness?
  2. Sensory?
  3. Reflexes?
  4. Fasciculations?
  5. Contractures?
  6. Myocardial Dysfunction?
A

Neuropathy vs Myopathy:

  1. Weakness - Distal vs Proximal
  2. Sensory - May have Features vs Pure Motor
  3. Reflexes - Lost Early vs Preserved Till Late
  4. Fasciculations - may be Present vs Not Typical
  5. Contractures - Not a Feature vs Present
  6. Myocardial Dysfunction - Not Typical vs May be Accompanying
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13
Q

What type pf Neuromuscular Condition Arise at the Neuromuscular Junction?

A

Myasthenic Syndromes

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14
Q

What type pf Neuromuscular Condition Arise at the Nerve?

A
  1. Hereditary Neuropathies

2. Acquired Neuropathies

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15
Q

What are the Different Types of Neuropathies?

A
  1. Chronic Progressive - Hereditary Sensory Motor Neuropathy

2. Acute Onset - Acute Inflammatory Demyelinating Polyneuropathy (Guillain-Barre Syndrome)

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16
Q

What are the Features of Hereditary Neuropathies?

A
  1. Present in Mid-Late Childhood
  2. Usually Symmetrical Distal Polyneuropathy
  3. Both Motor and Sensory Manifestation
  4. Clumsiness / Weakness / Loss of Fine Motor Control
  5. Distal Muscle Wasting and Weakness - Pes Cavus / Foot Drop and Absent Deep Tendon Reflex
  6. Late Sensory Loss with Distal to Proximal
17
Q

How is Hereditary-Sensory-Motor-Neuropathy Diagnosed?

A
  1. Nerve Conduction Study
  2. Electromyogram
  3. Genetic - Autosomal Dominant PMP22 / X-Linked
18
Q

What is the Management of Hereditary-Sensory-Motor-Neuropathy?

A
  1. Supportive

2. Gabapentin

19
Q

What type pf Neuromuscular Condition Arise at the Anterior Horn Cell?

A

Spinal Muscular Atrophy

3rd Year - Paediatrics (40 decks)

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