MASA syndrome

MASA syndrome
	Classification and external resources
OMIM	303350

Clinical: Approaches · Group therapy · Techniques · Types of problem · Areas of specialism · Taxonomies · Therapeutic issues · Modes of delivery · Model translation project · Personal experiences ·

MASA syndrome is a rare X-linked recessive neurological disorder on the L1 disorder spectrum belonging in the group of hereditary spastic paraplegias^[1] a paraplegia known to increase stiffness spasticity in the lower limbs.^[2]

This syndrome also has two other names, CRASH^[3] syndrome and Gareis-Mason syndrome.

Signs and symptoms[]

The acronym "MASA" stands for the four main signs and symptoms associated with the syndrome:

Mild to moderate mental retardation (now known as intellectual disability)
Aphasia (delayed onset of speech or losing the ability to understand and express speech)
Shuffling gait
Adducted thumbs^[4] characterized by cleft palate, microcephaly, and dysmyelination.^[5]

Other traits include:

Variable dilatation (widening) of the third heart ventricle in males^[4]
Hydrocephalus, often caused by an obstruction that prevents proper fluid drainage.^[6]
Spasticity of the lower limbs, causing the muscles to stiffen or tighten, preventing normal fluid movement^[7]
Seizures
Agenesis of the corpus callosum, a rare congenital disorder. It is characterized by a partial or complete absence (agenesis) of an area of the brain that connects the two cerebral hemispheres.^[8]

Genetics[]

MASA syndrome has been associated with variants in the L1CAM gene^[1] which is an axonal glycoprotein that is essential for normal development of the central and peripheral nervous systems during the fetal period and postnatally.^[9]

Since it is linked to the X chromosome, symptoms are more pronounced in people with only 1 X chromosome. The prevalence is approximately 1 in 30,000 males. Since a father gives his X chromosome to a daughter and a Y chromosome to a son, fathers can pass MASA syndrome on to their daughters but not sons.^[10]

Diagnosis[]

A diagnosis can be made when the clinical features have been identified, mainly the four common signs and symptoms. This can then be confirmed by single-gene sequencing, where the L1CAM gene is examined for any possible variations.^[4]

A diagnostic in utero test is possible and very reliable when the mother is a carrier of MASA syndrome. First, it's necessary to determine the fetus' sex and then study the X-chromosomes inherited from the mother. The probability of transferring the variant X-chromosome to the descendants is 50% regardless of the sex of the fetus (as illustrated by the figure). Male descendants who inherit the varied X-chromosome will express the symptoms of the syndrome, on the other hand females who inherit the varied X-chromosome will become carriers of the mutated gene and will not show any symptoms or clinical features of the syndrome.^[11]^[12]

Treatment[]

As of now, the only treatment for this disease is expertise in pediatrics, child neurology, neurosurgery, rehabilitation, and medical genetics.^[13] As some parts of the body can be damaged through time to time it can be useful to have the expertise to identify what other ways they can help for the complete health of the child.

Previous Cases[]

The first case of the MASA Syndrome was found in a boy in Asia. The patient was a 10-year-old boy with symptoms like mild intellectual disability, bilateral adducted thumbs and corpus callosum hypoplasia.^[14] His family did not have any history with MASA syndrome.

There is not just one specific doctor or scientist for this disorder. Since the L1 syndrome is composed of many X-linked disorders, more than one doctor or scientist may find the disorder in a person. Most of the doctors who find the disorder are Neuroscientists and some Pediatric Neurology specialists.^{[citation needed]}

References[]

↑ ^1.0 ^1.1 Reference, Genetics Home L1 syndrome.
↑ MASA syndrome (Medical Condition).Template:Cbignore
↑ Mental retardation, aphasia, shuffling gait, and adducted thumbs syndrome.
↑ ^4.0 ^4.1 ^4.2 Stumpel, Connie; Vos, Yvonne J. (1993), Adam, Margaret P.; Ardinger, Holly H.; Pagon, Roberta A. et al., eds., L1 Syndrome, University of Washington, Seattle, PMID 20301657, http://www.ncbi.nlm.nih.gov/books/NBK1484/, retrieved on 2019-03-13
↑ (1975)Adducted thumb syndromes. Clinical Genetics 8 (3): 190–198.
↑ Hydrocephalus: Causes, symptoms, and treatments.
↑ Gillis, Gary B. (2010-03-01). Contracting Muscles Stiffen Their Aponeuroses. Journal of Experimental Biology 213 (5): vi.
↑ Agenesis of Corpus Callosum.
↑ Bissonnette, Bruno; Luginbuehl, Igor; Marciniak, Bruno; Dalens, Bernard J. (2006), MASA Syndrome, The McGraw-Hill Companies, http://accessanesthesiology.mhmedical.com/content.aspx?aid=58075389, retrieved on 2020-04-30
↑ Reference, Genetics Home L1 syndrome.
↑ (1995). CRASH syndrome: clinical spectrum of corpus callosum hypoplasia, retardation, adducted thumbs, spastic paraparesis and hydrocephalus due to mutations in one single gene, L1. European Journal of Human Genetics 3 (5): 273–84.
↑ OMIM Entry - # 303350 - MASA SYNDROME.
↑ L1 Syndrome.
↑ (31 May 2005) First case of L1CAM gene mutation identified in MASA syndrome in Asia.. Congenital Anomalies 45 (2): 67–9.

External links[]

GeneReview/NIH/UW entry on L1 Syndrome

This page uses Creative Commons Licensed content from Wikipedia (view authors).

[:0-1] 1.0 ^1.1 Reference, Genetics Home L1 syndrome.

[2] MASA syndrome (Medical Condition).Template:Cbignore

[3] Mental retardation, aphasia, shuffling gait, and adducted thumbs syndrome.

[:1-4] 4.0 ^4.1 ^4.2 Stumpel, Connie; Vos, Yvonne J. (1993), Adam, Margaret P.; Ardinger, Holly H.; Pagon, Roberta A. et al., eds., L1 Syndrome, University of Washington, Seattle, PMID 20301657, http://www.ncbi.nlm.nih.gov/books/NBK1484/, retrieved on 2019-03-13

[5] (1975)Adducted thumb syndromes. Clinical Genetics 8 (3): 190–198.

[6] Hydrocephalus: Causes, symptoms, and treatments.

[7] Gillis, Gary B. (2010-03-01). Contracting Muscles Stiffen Their Aponeuroses. Journal of Experimental Biology 213 (5): vi.

[8] Agenesis of Corpus Callosum.

[9] Bissonnette, Bruno; Luginbuehl, Igor; Marciniak, Bruno; Dalens, Bernard J. (2006), MASA Syndrome, The McGraw-Hill Companies, http://accessanesthesiology.mhmedical.com/content.aspx?aid=58075389, retrieved on 2020-04-30

[10] Reference, Genetics Home L1 syndrome.

[pmid85563022-11] (1995). CRASH syndrome: clinical spectrum of corpus callosum hypoplasia, retardation, adducted thumbs, spastic paraparesis and hydrocephalus due to mutations in one single gene, L1. European Journal of Human Genetics 3 (5): 273–84.

[12] OMIM Entry - # 303350 - MASA SYNDROME.

[13] L1 Syndrome.

[14] (31 May 2005) First case of L1CAM gene mutation identified in MASA syndrome in Asia.. Congenital Anomalies 45 (2): 67–9.

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v·d·e Sex linkage: X-linked recessive disorders
Immune	Chronic granulomatous disease (CYBB) · Wiskott-Aldrich syndrome · X-linked Severe Combined Immunodeficiency · X-linked agammaglobulinemia · Hyper-IgM syndrome type 1 · IPEX
Hematologic	Haemophilia A · Haemophilia B · X-linked sideroblastic anemia · X-linked lymphoproliferative disease
Endocrine	Androgen insensitivity syndrome/Kennedy disease · Diabetes insipidus
Metabolic	amino acid: Ornithine transcarbamylase deficiency · Oculocerebrorenal syndrome dyslipidemia: Adrenoleukodystrophy carbohydrate metabolism: Glucose-6-phosphate dehydrogenase deficiency · Pyruvate dehydrogenase deficiency · Danon disease/glycogen storage disease Type IIb lipid storage disorder: Fabry's disease mucopolysaccharidosis: Hunter syndrome purine-pyrimidine metabolism: Lesch-Nyhan syndrome mineral: Menkes disease
Nervous system	X-Linked mental retardation: Coffin-Lowry syndrome · Fragile X syndrome · MASA syndrome · Rett syndrome eye disorders: Color blindness (red and green, but not blue) · Ocular albinism (1) · Norrie disease · Choroideremia other: Charcot-Marie-Tooth disease (CMTX2-3) · Pelizaeus-Merzbacher disease
Skin	Dyskeratosis congenita · Hypohidrotic ectodermal dysplasia (EDA) · X-linked ichthyosis
Neuromuscular	Becker's muscular dystrophy/Duchenne · Centronuclear myopathy · Myotubular myopathy · Conradi-Hünermann syndrome
Urologic	Alport syndrome · Dent's disease
No primary system	Barth syndrome · McLeod syndrome · Simpson-Golabi-Behmel syndrome
Note: there are very few X-linked dominant disorders. These include X-linked hypophosphatemia, Focal dermal hypoplasia, Aicardi syndrome, Incontinentia pigmenti, and CHILD.