Benign Congenital Hypotonia

Overview

Type of disease: Rare conditions

Benign congenital hypotonia (BCH), also known as congenital hypotonia with favourable outcome, is a birth condition characterized by low muscle tone (hyoptonia). Other features may include: abdominal protrusion, flat feet, walking on tip-toe, developmental delay, joint hyperlaxity (greater than normal range of motion), and muscle contractures. This condition occurs in both boys and girls, and roughly 30% of people affected have some family history of BCH. Many patients who were diagnosed with this condition have since received alternate diagnoses, so diagnosis of this condition is often restricted to children who have a favorable outcome and who cannot be diagnosed with another condition. A doctor can diagnose this condition using physical examinations, blood tests, muscle biopsies, and CT/MRI scans. Occasionally a family’s medical history can be used to make a diagnosis. Treatment typically involves physical therapy to increase muscle strength and prevent shortening of any muscles.

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