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Terms in this set (10)
What are some causes of infant hypotonia?
Anterior Horn Cell disorders
Neuromuscular Junction Disorders
Inborn Errors of Metabolism
What are the features of Prader-Willi?
Hypotonia, Poor feeding, FTT
Short stature, MR, Obesity
Small hands and feet and genitals
Characteristic facial features
How can you check for hypotonia?
Vertical suspension (baby doesn't spontaneously sit when held under arms)
Horizontal Suspension (baby doesn't lift head)
What is Spinal Muscular Atrophy?
Progressive atrophy of the anterior horn cells of the spinal cord (motor neurons for skm)
Proximal > Distal weakness (still wiggle toes)
Types 1-4 (Onset dependent)
What are some examples of Anterior Horn Cell disorders that cause hypotonia?
SMA, Traumatic Myelopathy, Hypoxic-Ischemic Myelopathy, Arthrogryposis Multiplex Congenita
What are some examples of Congenital Neuropathies that cause hypotonia in infant?
Congenital Motor and Sensory Neuropathies: e.g. Charcot-Marie-Tooth Disease
Hereditary Sensory and Autonomic Neuropathies: e.g. Familial Dysautonomia
What are some examples of NMJ disorders that cause hypotonia in infant?
Neonatal Myasthenia, Magnesium or Aminoglycoside Toxicity, Infant Botulism
What are some examples of Congenital Myopathies that cause hypotonia in the infant?
What are some examples of Muscular Dystrophies that cause hypotonia?
Dystrophinopathies: Duchenne and Becker
What are some inborn errors of metabolism that cause hypotonia?
Pompe: Acid Maltase Deficiency (Glycogen accumulation in lysosomes, have cardiomegaly)
Peroxisomal Disorders (Zellweger Syndrome)
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