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MASA syndrome
ICD-10 Codes
Related ICD-10:
Description
MASA syndrome, also known as L1 syndrome, is a rare X-linked recessive neurological disorder that affects males. The acronym MASA stands for Mental retardation [intellectual disability], Aphasia [delayed speech], Shuffling gait, and Adducted thumbs.
The main clinical features of MASA syndrome include:
- Mild to moderate intellectual disability
- Delayed development of speech (aphasia)
- Hypotonia progressing to spasticity or spastic paraplegia (shuffling gait)
- Adducted thumbs
MASA syndrome is a highly variable condition, and the severity of symptoms can range from mild to severe. It is characterized by a combination of physical and cognitive impairments.
According to various sources [1][3][5], MASA syndrome is an X-linked recessive disorder, meaning that it is inherited in an X-linked pattern and primarily affects males. The condition is caused by mutations in the L1 gene, which plays a crucial role in brain development and function.
MASA syndrome is often associated with other neurological disorders, such as hereditary spastic paraplegias [4]. Early diagnosis and intervention are essential for managing the symptoms of MASA syndrome and improving the quality of life for affected individuals.
References:
[1] - Characterized by mild to moderate intellectual deficit, delayed development of speech, hypotonia progressing to spasticity or spastic paraplegia. [3] - A X-linked, clinical subtype of L1 syndrome, characterized by mild to moderate intellectual disability, delayed development of speech, hypotonia progressing to ... [5] - MASA (mental retardation [intellectual disability], aphasia [delayed speech], spastic paraplegia [shuffling gait], adducted thumbs) syndrome [4] - MASA is an acronym that stands for Mental retardation, Aphasia, Shuffling gait, and Adducted thumbs. Hydrocephalus associated with aqueductal stenosis. [8] - Masa Syndrome (MASA). MCID: MSS001. Info Score: 66. Summary (AI-Supported). MASA syndrome, also known as L1 syndrome, is a rare X-linked recessive neurological ...
Additional Characteristics
- Mental retardation [intellectual disability]
- Aphasia [delayed speech]
- Shuffling gait
- Adducted thumbs
Signs and Symptoms
MASA
Additional Symptoms
- Language difficulties
- Short-term memory problems
- memory loss
Diagnostic Tests
Available Diagnostic Tests for MASA Syndrome
MASA syndrome, also known as Mental retardation, aphasia, shuffling gait, and adducted thumbs (MASA) syndrome, is a rare genetic disorder that can be diagnosed through various tests. Here are some diagnostic tests available for MASA syndrome:
- Genetic Testing: Genetic testing can confirm the presence of mutations in the L1CAM gene, which is responsible for MASA syndrome. This test can be performed on blood samples or other tissues.
- Prenatal Testing: Prenatal testing can also be done to detect the presence of the mutated L1CAM gene in a fetus. This test involves analyzing cells from the placenta or amniotic fluid.
- Molecular Diagnosis: Molecular diagnosis is a comprehensive genetic test that analyzes multiple genes, including the L1CAM gene, to confirm the diagnosis of MASA syndrome.
References:
- [3] and [9] mention that a diagnostic test prior-to-birth is possible and very reliable when the mother is a carrier of the diseased allele.
- [5] provides integrated disease information for Masa Syndrome including associated genes, mutations, phenotypes, pathways, drugs, and more - integrated from 75 data sources.
- [3] also mentions that Molecular Diagnosis of X-linked Hereditary Spastic Paraplegia NGS Panel (3 genes) is available at The Hospital for Sick Children and University of Toronto.
Note: These tests should only be performed under the guidance of a qualified healthcare professional.
Additional Diagnostic Tests
- Genetic Testing
- Prenatal Testing
- Molecular Diagnosis
Treatment
Treatment Options for MASA Syndrome
MASA syndrome, also known as L1 syndrome, is a rare hereditary neurological disorder characterized by mild to moderate intellectual disability, delayed development of speech, hypotonia progressing to spasticity or spastic paraplegia, add
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Differential Diagnosis
The differential diagnosis for MASA (mental retardation, aphasia, spastic paraplegia, adducted thumbs) syndrome involves ruling out other hydrocephalus and spastic paraplegia disorders.
- Other conditions that should be considered in the differential diagnosis include:
- Hydrocephalus: This is a condition characterized by an accumulation of cerebrospinal fluid (CSF) within the brain, leading to increased pressure and potential damage to the brain.
- Spastic paraplegia type 1: This is a progressive muscle disorder that affects the legs, causing stiffness and weakness.
- A comprehensive evaluation by a pediatric/neurologic/clinical genetics work-up is recommended to rule out these conditions and confirm the diagnosis of MASA syndrome.
According to search result [5], "The differential diagnosis is broad. Other hydrocephalus and spastic paraplegia disorders should be ruled out." This suggests that a thorough diagnostic process is necessary to accurately diagnose MASA syndrome and distinguish it from other similar conditions.
Additionally, search result [8] states that "MASA syndrome is a recessive X–linked disorder characterized by mental retardation, adducted thumbs, shuffling gait, aphasia and, in some cases, hydrocephalus." This further emphasizes the importance of considering these conditions in the differential diagnosis.
Additional Differential Diagnoses
- Spastic paraplegia type 1
- hydrocephalus
Additional Information
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