Congenital Fibre-Type Disproportion (CFTD) is a rare congenital myopathy characterized by a disproportion in muscle fibre size. The key features and considerations for CFTD are summarized below:

Overview

CFTD is considered a diagnosis of exclusion. It is defined by:

1. Histological Findings: A significant reduction in the size of type 1 (slow-twitch) muscle fibres relative to type 2 (fast-twitch) fibres. The size difference should be at least 35–40%, with no other major histological abnormalities present.
2. Clinical Features: Symptoms resemble those seen in other congenital myopathies, including generalized muscle weakness and hypotonia.

Associated Conditions

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