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Discuss differential diagnosis of a floppy infant. Write a short note on clinical and laboratory characteristics of Werdnig-Hoffman disease

Floppy infant:

Differential Diagnosis

Central nervous system

  • Chromosomal disorders
  • Inborn errors of metabolism
  • Cerebral dysgenesis
  • Trauma ( cerebral/spinal)

Motor neuron

  • Spinal Muscular Atrophy

Nerve

  • Peripheral neuropathies

Neuromuscular junction

  • Myasthenia syndromes
  • Infantile botulism

Muscle

  • Congenital myopathies
  • Metabolic myopathies
  • Congenital muscular dystrophy
  • Congenital myotonic dystrophy

Werdnig Hoffman disease:

This is type 1 Spinal Muscular Atrophy (SMA). This type constitute about 50-60% cases of SMA. There are three subtypes 
  1. Type 1A
  2. Type 1B
  3. Type 1C

Clinical features:

Type 1A:

Age of onset:                Prenatal
Life expectancy:         <6 months
Milestones achieved: none
Features: 
  • Severe weakness @ birth
  • Profound hypotonia
  • Areflexia
  • Paradoxical abdominal breathing, bell shaped chest, weak cough
  • Early respiratory failure
  • Joint contractures

Type 1B & 1C

Age of onset: 
  • Type 1B - 0-3 months
  • Type 1C - 3-6 months
Life expectancy: <2yrs without respiratory support
Milestones:.         Never sits without support
Features:
  • Weakness
  • Frog leg posture, hypotonia
  • Tongue fascinations
  • Hyporeflexia , areflexia
  • Sucking & swallowing difficulties
  • Respiratory failure

Laboratory findings

Serum creatinine kinase: mildly elevated (2-4 fold) not more than 10 times
Electrocardiography: lead II shows a base line tremor representing muscle fibrillations.
Motor Nerve conduction test: Normal
Molecular genetic test: Homozygous deletion of exon 7
Muscle biopsy: not done nowadays, gaint type 1 fibers are seen with in muscle facicles of severely atrophic fibres


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