U.S. flag

An official website of the United States government

GTR Home > Tests > 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) (Prenatal)

Indication

This is a clinical test intended for Help: Diagnosis

Clinical summary

Help

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.

Clinical features

Help

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
  • Cobblestone lissencephaly
  • Abnormality of eye movement
  • Muscular 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
Show all

Inheritance pattern

Help

Autosomal recessive inheritance

Conditions tested

Target population

Help

Muscular dystrophy-dystroglycanopathy (diagnosis/ clinical suspition/ etiology investigation/ classification)

Citations

Not provided

Clinical validity

Help

Not provided

Clinical utility

Help

Not provided

IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.