Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4, 253800, Autosomal recessive; MDDGA4 (Muscle-eye-brain disease) (FKTN gene) (Sequence Analysis-All Coding Exons) (Postnatal)

Imported from GeneReviews

Fukuyama congenital muscular dystrophy (FCMD) is characterized by hypotonia, symmetric generalized muscle weakness, and CNS migration disturbances that result in changes consistent with cobblestone lissencephaly with cerebral and cerebellar cortical dysplasia. Mild, typical, and severe phenotypes are recognized. Onset typically occurs in early infancy with poor suck, weak cry, and floppiness. Affected individuals have contractures of the hips, knees, and interphalangeal joints. Later features include myopathic facial appearance, pseudohypertrophy of the calves and forearms, motor and speech delays, intellectual disability, seizures, ophthalmologic abnormalities including visual impairment and retinal dysplasia, and progressive cardiac involvement after age ten years. Swallowing disturbance occurs in individuals with severe FCMD and in individuals older than age ten years, leading to recurrent aspiration pneumonia and death.

Imported from Human Phenotype Ontology (HPO)

• Primary dilated cardiomyopathy
• Atrial septal defect
• Hydrocephalus
• Hypermetropia
• Microphthalmia
• Hypotonia
• Myopia
• Optic atrophy
• Respiratory insufficiency
• Retinal detachment
• Retinal dysplasia
• Scoliosis
• Seizure
• Strabismus
• Transposition of the great arteries
• Holoprosencephaly sequence
• Cataract
• Myocardial fibrosis
• Muscle weakness
• Corpus callosum, agenesis of
• Areflexia
• Elevated circulating creatine kinase concentration
• Lissencephaly
• Polymicrogyria
• Cerebellar hypoplasia
• Flexion contracture
• Type II lissencephaly
• Abnormality of eye movement
• Skeletal muscle atrophy
• Congenital muscular dystrophy
• Exaggerated startle response
• Hypoplasia of the brainstem
• Calf muscle hypertrophy
• Cerebellar cyst
• Hypoplasia of the pyramidal tract
• Spinal rigidity
• Generalized hypotonia
• Agyria
• Pulmonic stenosis
• Intellectual disability
• Encephalocele
• Pachygyria