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Diseases » MASA Syndrome » Summary
 

What is MASA Syndrome?

What is MASA Syndrome?

  • MASA Syndrome: A very rare inherited disorders characterized by mental retardation (M), aphasia (A), shuffling walk (S) and adducted thumbs (A). The symptoms are variable from case to case but mental retardation is a consistent feature.
  • MASA Syndrome: X-linked mental retardation syndrome associated with aphasia, shuffling gait, adducted thumbs, and other abnormalities. MASA syndrome, X-linked hydrocephalus, and spastic paraplegia (SPG1) share many common characteristics with this syndrome.
    Source - Diseases Database

MASA Syndrome is listed as a "rare disease" by the Office of Rare Diseases (ORD) of the National Institutes of Health (NIH). This means that MASA Syndrome, or a subtype of MASA Syndrome, affects less than 200,000 people in the US population.
Source - National Institutes of Health (NIH)

Ophanet, a consortium of European partners, currently defines a condition rare when it affects 1 person per 2,000. They list MASA Syndrome as a "rare disease".
Source - Orphanet

MASA Syndrome: Introduction

Types of MASA Syndrome:

Broader types of MASA Syndrome:

How serious is MASA Syndrome?

Complications of MASA Syndrome: see complications of MASA Syndrome

What causes MASA Syndrome?

Causes of MASA Syndrome: see causes of MASA Syndrome

What are the symptoms of MASA Syndrome?

Symptoms of MASA Syndrome: see symptoms of MASA Syndrome

Complications of MASA Syndrome: see complications of MASA Syndrome

MASA Syndrome: Testing

Diagnostic testing: see tests for MASA Syndrome.

Misdiagnosis: see misdiagnosis and MASA Syndrome.

How is it treated?

Doctors and Medical Specialists for MASA Syndrome: Medical Geneticist ; see also doctors and medical specialists for MASA Syndrome.
Treatments for MASA Syndrome: see treatments for MASA Syndrome
Research for MASA Syndrome: see research for MASA Syndrome

Name and Aliases of MASA Syndrome

Main name of condition: MASA Syndrome

Other names or spellings for MASA Syndrome:

Mental Retardation, Aphasia, Shuffling Gait, Adducted Thumbs (MASA), Gareis-Mason syndrome, Clasped thumb and mental retardation, Thumb, congenital clasped, with mental retardation, Adducted thumb with mental retardation, Spastic paraplegia, type 1, SPG1, Crash syndrome

Gareis-Mason syndrome, Bianchine-Lewis syndrome Source - Diseases Database

Adducted thumb with mental retardation, Bianchine-Lewis syndrome, Clasped thumb and mental retardation, Gareis-Mason syndrome, Mental Retardation, Aphasia, Shuffling Gait, Adducted Thumbs (MASA), Thumb, congenital clasped, with mental retardation
Source - Office of Rare Diseases (ORD) of the National Institutes of Health (NIH)

MASA Syndrome: Related Conditions

Research the causes of these diseases that are similar to, or related to, MASA Syndrome:

 

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