Hypotonia

Hypotonia: Excerpt from In A Page: Pediatric Signs and Symptoms

Hypotonia can present as decreased resistance to passive movement and increased range of motion of joints. Etiology may be abnormalities of the brain, anterior horn cells of the spinal cord, peripheral nerve, neuromuscular junction, or muscle. Neurologic examination and the ancillary tests help narrow the possible etiologies.

Differential Diagnosis

• Benign congenital hypotonia
• Chromosome abnormalities: Trisomy 21, trisomy 13, Prader-Willi, cri-du-chat
• Hypoxic ischemic encephalopathy
• Spinal muscular atrophy (SMA)
• Infantile botulism
• Hypothyroidism
• Spinal cord injury
• Cerebral malformations
• Toxins: Organophosphates, aminoglycosides, antineoplastic agents, chloroquine, glue-sniffing
• Myasthenia gravis
  –Transient neonatal myasthenia
  –Congenital myasthenia
  –Familial infantile myasthenia
• Guillain-Barré syndrome (GBS) or chronic inflammatory demyelinating polyneuropathy (CIDP)
• Muscular dystrophy: Duchenne, Becker, facioscapulohumeral, Fuluyama, merosindeficient congenital muscular dystrophy
• Congenital myotonic dystrophy
• Hereditary motor-sensory neuropathy
• Metachromatic leukodystrophy
• Globoid cell leukodystrophy
• Congenital myopathies: Central core disease, myotubular, nemaline (rod), congenital fiber-type disproportion
• Peroxisomal disorders
  –Neonatal adrenoleukodystrophy, Zellweger
• Hypermagnesimia
• Myositis
• Lipid storage muscular disorders
• Mitochondrial encephalomyopathy
• Pompe disease (glycogen storage disease type II, acid maltase deficiency)
• McArdle disease
• Walker-Warburg syndrome
• Lowe syndrome (oculocerebrorenal)
• Werdnig-Hoffman Disease
• Familial dysautonomia
• Tick paralysis
• Poliomyelitis

Workup and Diagnosis

• History
  –Birth history, fetal motion, oligo-polyhydramnios
  –Feeding, head control, gross/fine motor milestones
  –Seizures, family history, constipation, tick bite

• Physical exam
  –Deformities, dermatoglyphics, contractures, scoliosis, spinal dimple, hernias, corneal opacities, high or cleft palate, muscle mass
  –Cardiac size, hip dislocation, flat occiput
  –Muscle mass, strength and tone, facial movements, fasiculations, DTRs, sensory responses
  –Newborns: Posture, spontaneous movements, plantar response, primary neonatal reflexes (Moro, palmar grasp, tonic neck response)
  –Older child: Gowers sign, mental status, eye movements, stance and gait

• Labs
  –Muscle enzymes (CPK, aldolase)
  –Electrolytes, TSH, lactate, pyruvate
  –Carnitine, acylcarnitine, very long chain fatty acids
  –Stool botulinum toxin
  –LP for GBS
• Studies
  –EMG/nerve conduction studies
  –Muscle biopsy for metabolic, congenital myopathies
  –MRI for cerebral malformations, spinal cord lesions
  –Specific genetic testing
  –SMA, muscular dystrophy, myotonic dystrophy

Treatment

• Treatment is tailored for each patient and is mostly supportive for genetic diseases, metabolic disorders, and myopathies
• Combination of physical therapy, bracing, and orthopedic surgical interventions can give patients longer life expectancy
  –Efficacy of the physical therapy programs for most progressive diseases is limited
• Cardiomyopathy frequently coexists with neuromuscular conditions causing hypotonia
• Duchenne muscular dystrophy
  –Oral prednisone is used to increase and sustain muscle strength
• Infantile botulism
  –Supportive therapy for respiratory insuffiency or bulbar dysfunction
  –Botulinum immune globulin is beneficial if given within the first 3 days of illness
• Synthoid for hypothyroidism

Book Source Details

• Book Title: In A Page: Pediatric Signs and Symptoms
• Author(s): Jonathan E. Teitelbaum, Kathleen O. Deantonis, Scott Kahan
• Year of Publication: 2007
• Copyright Details: In A Page: Pediatric Signs and Symptoms, Copyright © 2007 Lippincott Williams & Wilkins.

More About Prader-Willi syndrome

• Back to disease: Prader-Willi syndrome: Introduction
• Next Book Extract About Prader-Willi syndrome: Obesity (In A Page: Pediatric Signs and Symptoms)
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Copyright notice for book excerpts: Copyright © 2008 Lippincott Williams & Wilkins. All rights reserved.

More About This Book: Title: In A Page: Pediatric Signs and Symptoms Authors: Jonathan E. Teitelbaum, Kathleen O. Deantonis, Scott Kahan Publisher: Lippincott Williams & Wilkins Copyright: 2007 ISBN: 1-4051-0427-9

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