Clinical Guidance

Fukuyama congenital muscular dystrophy (FCMD) is characterized by dystrophic changes in the skeletal muscle and by central nervous system migration abnormalities resulting in cerebral and cerebellar cortical dysplasia. Clinical manifestations include hypotonia, weakness, and neurodevelopmental delays. Mild, typical, and severe phenotypes are recognized. The phenotypic spectrum ranges from a Walker-Warburg syndrome-like phenotype at the severe end to a limb-girdle muscular dystrophy-like phenotype at the mild end . To date, at least 500 individuals have been identified with biallelic pathogenic variants in FKTN [, , , , , , , ]. The following description of the phenotypic features associated with this condition is based on these reports. Table 2. Fukuyama Congenital Muscular Dystrophy: Frequency of Select Features

Diagnostic Criteria

No consensus clinical diagnostic criteria for Fukuyama congenital muscular dystrophy (FCMD) have been published.

Suggestive Findings

FCMD should be suspected in individuals with the following clinical, imaging, laboratory, and histopathology findings and family history.

Clinical findings

Source: GeneReviews — "Fukuyama Congenital Muscular Dystrophy"

Management Guidelines

No clinical practice guidelines for Fukuyama congenital muscular dystrophy (FCMD) have been published. Consensus statements on standard of care and medical management for congenital muscular dystrophies (CMD) broadly have been published .

Evaluations Following Initial Diagnosis

To establish the extent of disease and needs in an individual diagnosed with FCMD, the evaluations summarized (if not performed as part of the evaluation that led to the diagnosis) are recommended.

Surveillance Guidelines

To monitor existing manifestations, the individual's response to supportive care, and the emergence of new manifestations, the evaluations summarized in are recommended. Table 7. Fukuyama Congenital Muscular Dystrophy: Recommended Surveillance