PEDBASE.org - The Pediatric Database - Detailed information of BENIGN CONGENITAL HYPOTONIA

BENIGN CONGENITAL HYPOTONIA

DEFINITION:

A disorder characterized by nonprogressive hypotonia of unknown etiology.

EPIDEMIOLOGY:

incidence: ?
age of onset:
- newborn -> first few months of life
risk factors:
- ?

PATHOGENESIS:

1. Background

may arise from improper neurogenic influences on the gamma loop from the CNS
diagnosis is retrospective and by exclusion of organic causes of hypotonia

CLINICAL FEATURES:

1. Neurological Manifestations

infantile hypotonia
not associated with:
- decreased fetal movements
- muscle weakness
- significant gross motor developmental delay
- cranial nerve abnormalities
intellect may or may not be normal
deep tendon reflexes are normal -> absent

2. Complications

recurrent joint dislocations, i.e., shoulder
excessive motility of the spine
- stretch injury, compression, vascular compromise of nerve roots or spinal cord

INVESTIGATIONS:

1. EMG

normal or evidence of myopathy
- excess polyphasic potentials or short-duration potentials

2. Muscle Biopsy

normal

3. Imaging Studies

normal imaging of the CNS

MANAGEMENT:

1. Supportive

Paediatrics - moniter hypotonia and complications

2. Prognosis

good but hypotonia may persist with complete recovery not until the end of first decade or in adult life

Pediatric Database - BENIGN CONGENITAL HYPOTONIA

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