|
Neuromuscular disorders (weakness prominent) |
Central disorders with abnormal neurologic signs or peripheral disorders (little or no weakness) |
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Neonate |
Infantile spinal muscular atrophy Congenital myotonic dystrophy Neonatal myasthenia gravis Congenital myopathiesa,b Metabolic myopathiesc Congenital muscular dystrophies |
Perinatal asphyxia Cerebral hemorrhage Sepsis Intoxication Spinal cord injury or malformation Failure-to-thrive syndromes Congenital hypothyroidism Neurotransmitter disorders Down syndrome Prader-Willi syndrome Other dysgenetic syndromes |
Age 1–6 months (or later) |
Infantile spinal muscular atrophy Infantile Guillain-Barré syndrome or other neuropathies Congenital myasthenic syndromesd Botulism |
Metabolic cerebral degenerationse Connective tissue disordersf Metabolic and endocrine diseasesg Hypotonic cerebral palsy Benign congenital hypotonia |
a Spinal muscular atrophy and congenital myopathies are more likely to become symptomatic after the neonatal period. |
b Congenital myopathies include those characterized by specific histochemical abnormality (nemaline, central cores, myotubules and other structures). |
c Metabolic myopathies include infantile acid maltase deficiency (Pompe disease), mitochondrial DNA depletion syndrome and benign and fatal infantile cytochrome C oxidase deficiency. |
d Congenital myasthenic syndromes do not usually cause symptoms, in infants, other than ophthalmoplegia. |
e Leukodystrophies, lipid storage diseases, peroxisomal diseases, mucopolysaccharidosis, aminoacidurias, Leigh syndrome. |
f Congenital laxity of ligaments, Ehler-Danlos syndrome, Marfan syndrome. |
g Organic acidemia, hypocalcemia, hypercalcemia, hypothyroidism, renal tubular acidosis. |