GM1 gangliosidoses

GM1 gangliosidoses
ICD-10	E75.1
ICD-9	330.1
OMIM	230600 230650, 230500
DiseasesDB	32008 Template:DiseasesDB2
eMedicine	ped/2891
MeSH	D016537

WikiDoc Resources for GM1 gangliosidoses
Articles
Most recent articles on GM1 gangliosidoses Most cited articles on GM1 gangliosidoses Review articles on GM1 gangliosidoses Articles on GM1 gangliosidoses in N Eng J Med, Lancet, BMJ
Media
Powerpoint slides on GM1 gangliosidoses Images of GM1 gangliosidoses Photos of GM1 gangliosidoses Podcasts & MP3s on GM1 gangliosidoses Videos on GM1 gangliosidoses
Evidence Based Medicine
Cochrane Collaboration on GM1 gangliosidoses Bandolier on GM1 gangliosidoses TRIP on GM1 gangliosidoses
Clinical Trials
Ongoing Trials on GM1 gangliosidoses at Clinical Trials.gov Trial results on GM1 gangliosidoses Clinical Trials on GM1 gangliosidoses at Google
Guidelines / Policies / Govt
US National Guidelines Clearinghouse on GM1 gangliosidoses NICE Guidance on GM1 gangliosidoses NHS PRODIGY Guidance FDA on GM1 gangliosidoses CDC on GM1 gangliosidoses
Books
Books on GM1 gangliosidoses
News
GM1 gangliosidoses in the news Be alerted to news on GM1 gangliosidoses News trends on GM1 gangliosidoses
Commentary
Blogs on GM1 gangliosidoses
Definitions
Definitions of GM1 gangliosidoses
Patient Resources / Community
Patient resources on GM1 gangliosidoses Discussion groups on GM1 gangliosidoses Patient Handouts on GM1 gangliosidoses Directions to Hospitals Treating GM1 gangliosidoses Risk calculators and risk factors for GM1 gangliosidoses
Healthcare Provider Resources
Symptoms of GM1 gangliosidoses Causes & Risk Factors for GM1 gangliosidoses Diagnostic studies for GM1 gangliosidoses Treatment of GM1 gangliosidoses
Continuing Medical Education (CME)
CME Programs on GM1 gangliosidoses
International
GM1 gangliosidoses en Espanol GM1 gangliosidoses en Francais
Business
GM1 gangliosidoses in the Marketplace Patents on GM1 gangliosidoses
Experimental / Informatics
List of terms related to GM1 gangliosidoses

Overview

The GM1 gangliosidoses are caused by a deficiency of beta-galactosidase, with resulting abnormal storage of acidic lipid materials in cells of the central and peripheral nervous systems, but particularly in the nerve cells.

GM1 has three forms: early infantile, late infantile, and adult.

Early infantile GM1

Symptoms of early infantile GM1 (the most severe subtype, with onset shortly after birth) may include neurodegeneration, seizures, liver and spleen enlargement, coarsening of facial features, skeletal irregularities, joint stiffness, distended abdomen, muscle weakness, exaggerated startle response to sound, and problems with gait.

About half of affected patients develop cherry-red spots in the eye.

Children may be deaf and blind by age 1 and often die by age 3 from cardiac complications or pneumonia.

Late infantile GM1

Onset of late infantile GM1 is typically between ages 1 and 3 years.

Neurological symptoms include ataxia, seizures, dementia, and difficulties with speech.

Adult GM1

Onset of adult GM1 is between ages 3 and 30.

Symptoms include muscle atrophy, neurological complications that are less severe and progress at a slower rate than in other forms of the disorder, corneal clouding in some patients, and dystonia (sustained muscle contractions that cause twisting and repetitive movements or abnormal postures).

Angiokeratomas may develop on the lower part of the trunk of the body.

Most patients have a normal size liver and spleen.