Fukuyama congenital muscular dystrophy
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Fukuyama congenital muscular dystrophy is an inherited condition that predominantly affects the muscles, brain, and eyes. Congenital muscular dystrophies are a group of genetic conditions that cause muscle weakness and muscle wasting (atrophy) beginning early in life. The signs and symptoms of Fukuyama congenital muscular dystrophy can vary from mild to severe.
Descripción
Fukuyama congenital muscular dystrophy is an inherited condition that predominantly affects the muscles, brain, and eyes. Congenital muscular dystrophies are a group of genetic conditions that cause muscle weakness and muscle wasting (atrophy) beginning early in life. The signs and symptoms of Fukuyama congenital muscular dystrophy can vary from mild to severe.
Fukuyama congenital muscular dystrophy affects the skeletal muscles, which are the muscles the body uses for movement. The signs and symptoms of the disorder typically begin in early infancy and include a weak cry, difficulty feeding, and weak muscle tone (hypotonia). Weakness of the facial muscles often leads to a distinctive facial appearance including droopy eyelids (ptosis) and an open mouth. In childhood, muscle weakness and joint deformities (contractures) restrict movement and interfere with the development of motor skills such as sitting, standing, and walking. Children with mild Fukuyama congenital muscular dystrophy may be able to stand or walk on their own, while those with severe signs and symptoms may not be able to sit without support.
Fukuyama congenital muscular dystrophy also impairs brain development. People with this condition often have a brain abnormality called cobblestone lissencephaly, in which the surface of the brain has a bumpy, irregular appearance (like that of cobblestones). These irregularities in the structure of the brain lead to delays in the development of motor skills and speech and moderate to severe intellectual disabilities. Social skills are less severely impaired. More than half of all affected children experience seizures.
In some people with Fukuyama congenital muscular dystrophy, vision is impaired. They may also have increased pressure in the eye (glaucoma) or abnormalities in the specialized light-sensitive tissue that lines the back of the eye (retina).
Individuals with Fukuyama congenital muscular dystrophy often develop heart problems in adolescence. These heart problems worsen over time. Severely affected individuals may also develop swallowing difficulties that can lead to a bacterial lung infection called aspiration pneumonia. The serious medical problems associated with Fukuyama congenital muscular dystrophy can shorten the life expectancy of someone with this condition.
Patrones de herencia
The source lists the following possible inheritance patterns: Autosomal recessive. More than one pattern can apply in different cases.
Related genes
Otros nombres
Congenital muscular dystrophy, Fukuyama type
FCMD
FKTN-related congenital muscular dystrophy
MDDGA4
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4
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Lecturas adicionales y referencias
- Fukuyama congenital muscular dystrophy; MedlinePlus, National Library of Medicine.
- Agarwal A, Sabat S, Kanekar S. Fukuyama Congenital Muscular Dystrophy. Cureus. 2022 Feb 4;14(2):e21902. doi: 10.7759/cureus.21902. eCollection 2022 Feb.
- Martin PT. Mechanisms of disease: congenital muscular dystrophies-glycosylation takes center stage. Nat Clin Pract Neurol. 2006 Apr;2(4):222-30. doi: 10.1038/ncpneuro0155.
- Saito K. Fukuyama Congenital Muscular Dystrophy. 2006 Jan 26 [updated 2025 May 8]. In: Adam MP, Bick S, Mirzaa GM, Wallace SE, Amemiya A, editors. GeneReviews(R) [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2026. Available from http://www.ncbi.nlm.nih.gov/books/NBK1206/
- Toda T, Kobayashi K, Takeda S, Sasaki J, Kurahashi H, Kano H, Tachikawa M, Wang F, Nagai Y, Taniguchi K, Taniguchi M, Sunada Y, Terashima T, Endo T, Matsumura K. Fukuyama-type congenital muscular dystrophy (FCMD) and alpha-dystroglycanopathy. Congenit Anom (Kyoto). 2003 Jun;43(2):97-104. doi: 10.1111/j.1741-4520.2003.tb01033.x.
- Yoshioka M, Higuchi Y, Fujii T, Aiba H, Toda T. Seizure-genotype relationship in Fukuyama-type congenital muscular dystrophy. Brain Dev. 2008 Jan;30(1):59-67. doi: 10.1016/j.braindev.2007.05.012. Epub 2007 Jun 26.
- Yoshioka M, Kuroki S. Clinical spectrum and genetic studies of Fukuyama congenital muscular dystrophy. Am J Med Genet. 1994 Nov 15;53(3):245-50. doi: 10.1002/ajmg.1320530309.
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