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  • Wrong UID 1054465

Spongy degeneration of central nervous system

MedGen UID:
61565
Concept ID:
C0206307
Disease or Syndrome
Synonyms: ACY2 DEFICIENCY; AMINOACYLASE 2 DEFICIENCY; ASP DEFICIENCY; ASPA DEFICIENCY; ASPARTOACYLASE DEFICIENCY; Canavan disease; CANAVAN-VAN BOGAERT-BERTRAND DISEASE; Spongy degeneration of the central nervous system; Von Bogaert-Bertrand disease
SNOMED CT: Spongy degeneration of central nervous system (80544005); Spongy degeneration of white matter (80544005); Canavan's disease (80544005); Canavan-van Bogaert-Bertrand disease (80544005); Canavan-van-Bogaert-Bertrand disease (80544005); Aspartoacylase deficiency (80544005); Spongy degeneration of white matter in infancy (80544005); Spongiform leucodystrophy (80544005)
Modes of inheritance:
 
ASPA (17p13.2)
 
Monarch Initiative: MONDO:0010079
OMIM®: 271900
Orphanet: ORPHA141
Authors:

Additional description

From MedlinePlus Genetics
Canavan disease is a rare inherited disorder that damages the ability of nerve cells (neurons) in the brain to send and receive messages. This disease is one of a group of genetic disorders called leukodystrophies. Leukodystrophies disrupt the growth or maintenance of the myelin sheath, which is the covering that protects nerves and promotes the efficient transmission of nerve impulses.

The life expectancy for people with Canavan disease varies. Most people with the neonatal/infantile form live only into childhood, although some survive into adolescence or beyond. People with the mild/juvenile form do not appear to have a shortened lifespan.

Neonatal/infantile Canavan disease is the most common and most severe form of the condition. Affected infants appear normal for the first few months of life, but by age 3 to 5 months, problems with development become noticeable. These infants usually do not develop motor skills such as turning over, controlling head movement, and sitting without support. Other common features of this condition include weak muscle tone (hypotonia), an unusually large head size (macrocephaly), and irritability. Feeding and swallowing difficulties, seizures, and sleep disturbances may also develop.

The mild/juvenile form of Canavan disease is less common. Affected individuals have mildly delayed development of speech and motor skills starting in childhood. These delays may be so mild and nonspecific that they are never recognized as being caused by Canavan disease.  https://medlineplus.gov/genetics/condition/canavan-disease

Clinical features

From HPO

Professional guidelines

PubMed

McEvoy JW, McCarthy CP, Bruno RM, Brouwers S, Canavan MD, Ceconi C, Christodorescu RM, Daskalopoulou SS, Ferro CJ, Gerdts E, Hanssen H, Harris J, Lauder L, McManus RJ, Molloy GJ, Rahimi K, Regitz-Zagrosek V, Rossi GP, Sandset EC, Scheenaerts B, Staessen JA, Uchmanowicz I, Volterrani M, Touyz RM; ESC Scientific Document Group
Eur Heart J 2024 Oct 7;45(38):3912-4018. doi: 10.1093/eurheartj/ehae178. PMID: 39210715
Bradbury AM, Ream MA
Semin Pediatr Neurol 2021 Apr;37:100876. Epub 2021 Feb 10 doi: 10.1016/j.spen.2021.100876. PMID: 33892849
Pleasure D, Guo F, Chechneva O, Bannerman P, McDonough J, Burns T, Wang Y, Hull V
Neurochem Res 2020 Mar;45(3):561-565. Epub 2018 Dec 8 doi: 10.1007/s11064-018-2693-6. PMID: 30535831Free PMC Article

Curated

American College of Medical Genetics ACT Sheet, Carrier Screening ACT Sheet Ashkenazi Jewish Genetic Disorders

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    Curated

    • ACMG ACT, 2011
      American College of Medical Genetics ACT Sheet, Carrier Screening ACT Sheet Ashkenazi Jewish Genetic Disorders

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