Only the infantile form has the typical cherry red spot in the macula but is present in only about 50% of infants. [disorders.eyes.arizona.edu]

Authors: Omkar Hajirnis and Anaita Udwadia-Hegde Article first published online:2 JUN 2015 | DOI: 10.1002/mdc3.12197 Case Report This 27-year-old female presented with delay in motor milestones noted in infancy followed by slowly progressive motor disability [movementdisorders.org]

Age The infantile form (type 1) of G M1 gangliosidosis typically presents from birth to age 6 months, the juvenile form (type 2) typically presents in children aged 1-3 years, and the adult form (type 3) typically presents during childhood or adolescence [emedicine.medscape.com]

Symptoms are often observed around 3 months of age with progressive deterioration occurring between 12 and 18 months of age but visceromegaly, dysmorphisms and cherry-red spots are usually not present. [themedicalbiochemistrypage.org]

She had numerous and diffusely distributed hyperpigmented lesions which is an unusual presentation for typical Mongolian spots. She also had diffuse ecchymosis without an obvious cause. [e-ijd.org]

• Splenomegaly

  Early infantile GM1 [ edit ] Symptoms of early infantile GM1 (the most severe subtype, with onset shortly after birth) may include neurodegeneration, seizures, liver enlargement ( hepatomegaly ), spleen enlargement ( splenomegaly ), coarsening of facial [en.wikipedia.org]

  0000639 Rough bone trabeculation 0100670 Scoliosis Abnormal curving of the spine 0002650 Short stature Decreased body height Small stature [ more ] 0004322 Skeletal dysplasia 0002652 Spasticity Involuntary muscle stiffness, contraction, or spasm 0001257 Splenomegaly [rarediseases.info.nih.gov]

  As I followed her over two subsequent outpatient visits, the edema waxed and waned but she definitely began to develop hepatomegaly without splenomegaly, and I felt her facial features were becoming a little coarse. Dr. [healio.com]

• Low Set Ears

  Infants have coarse thick hair, a depressed nasal bridge, gingival hypertrophy, large low-set ears and hair on the forehead. [themedicalbiochemistrypage.org]

• Flexion Contracture

  contractures noted by 3 months; early subperiosteal bone formation (may be present at birth); diaphyseal widening later; demineralization; thoracolumbar vertebral hypoplasia and beaking at age 3–6 months; kyphoscoliosis. [en.wikipedia.org]

• Frontal Bossing

  The ears are often large and low-set, the nasal bridge is depressed, the tongue is enlarged and frontal bossing is often striking. Hirsutism, coarse skin, short digits, and inguinal hernias are common. [disorders.eyes.arizona.edu]

  Macular cherry-red spots in 50% by 6–10 months; corneal opacities in some Facial dysmorphology: frontal bossing, wide nasal bridge, facial edema (puffy eyelids); peripheral edema, epicanthus, long upper lip, microretrognathia, gingival hypertrophy (thick [en.wikipedia.org]

  bossing, long philtrum, prominent maxilla, and macroglossia), bone defects similar to those seen in hurler syndrome (mainly dysostosis multiplex and long bone and vertebral anomalies), and other abnormalities. [icd10data.com]

  Dysmorphic features (These features display in some infantile cases, but are usually not present with juvenile or adult) Frontal bossing - a prominent, protruding forehead. [gm1gangliosidosis.blogspot.com]

  bossing 0002007 Ganglioside accumulation 0004345 Hyperreflexia Increased reflexes 0001347 Joint stiffness Stiff joint Stiff joints [ more ] 0001387 Long philtrum 0000343 Macrotia Large ears 0000400 Muscular hypotonia Low or weak muscle tone 0001252 Nystagmus [rarediseases.info.nih.gov]

• Depressed Nasal Bridge

  Infants have coarse thick hair, a depressed nasal bridge, gingival hypertrophy, large low-set ears and hair on the forehead. [themedicalbiochemistrypage.org]

  Case Report An 18-month-old child presented with history of spasticity, delayed milestones, facial dysmorphic features (depressed nasal bridge) and macrocephaly. Retinoscopy revealed macular cherry red spots. [bhj.org.in]

  Depressed nasal bridge and broad nasal tip Large low- s et ears Long philtrum - the skin between the nose and mouth C ourse skin, thick skin Gingival hypertrophy - enlarged gums Macroglossia – unusually large tongue Hirsutism – excessive amounts of hair [gm1gangliosidosis.blogspot.com]

  Coarse facial appearance 0000280 Depressed nasal bridge Depressed bridge of nose Flat bridge of nose Flat nasal bridge Flat, nasal bridge Flattened nasal bridge Low nasal bridge Low nasal root [ more ] 0005280 Depressed nasal ridge Flat nose Recessed [rarediseases.info.nih.gov]

• Facial Edema

  Macular cherry-red spots in 50% by 6–10 months; corneal opacities in some Facial dysmorphology: frontal bossing, wide nasal bridge, facial edema (puffy eyelids); peripheral edema, epicanthus, long upper lip, microretrognathia, gingival hypertrophy (thick [en.wikipedia.org]

  Facial Edema - or facial swelling Cardiovascul ar findings Dilated and/or hypertrophic cardiomyopathy - is a condition in which the heart becomes weakened and enlarged and cannot pump blood efficiently. [gm1gangliosidosis.blogspot.com]

• Hyperreflexia

  Systemic Features: Infants with type I disease are usually hypotonic from birth but develop spasticity, psychomotor retardation, and hyperreflexia within 6 months. Early death from cardiopulmonary disease or infection is common. [disorders.eyes.arizona.edu]

  *Muscle Weakness Hyperreflexia – Is defined as overactive or over-responsive reflexes. Examples of this can include twitching or spastic tendencies. Generalized dystonia – painful muscle contractions resulting in uncontrollable distortions. [gm1gangliosidosis.blogspot.com]

  […] nasal bridge Flattened nasal bridge Low nasal bridge Low nasal root [ more ] 0005280 Depressed nasal ridge Flat nose Recessed nasal ridge [ more ] 0000457 Encephalitis Brain inflammation 0002383 Frontal bossing 0002007 Ganglioside accumulation 0004345 Hyperreflexia [rarediseases.info.nih.gov]

Workup for her over several years included routine blood tests, alpha-fetoprotein, vitamin E, copper, and ceruloplasmin titers, which were negative. [movementdisorders.org]

• Delayed Bone Age

  Delayed bone age also may be demonstrated. In the adult form, only mild vertebral changes may be observed.7 Ultrasound : An ultrasound of the abdomen may reveal organomegaly. References 1. Tegay DH, Fallet S. GM1 gangliosidosis. eMedicine.com, Inc. [bhj.org.in]

Treatment Treatment Options: There is no treatment that effectively alters the disease course. References [disorders.eyes.arizona.edu]

Management and treatment Treatment for patients with GM1 gangliosidosis is symptomatic and supportive. Substrate reduction therapy is a potential approach for clinical trials in late-onset forms. [orpha.net]

This era was followed by improved environmental factors which operate to produce methods of medical treatment, introduction congenital cardiac malformations. [books.google.com]

Last updated: 11/17/2015 There is currently no effective medical treatment for GM1 gangliosidosis. [3] [4] Symptomatic treatment for some of the neurologic signs and symptoms is available, but does not significantly alter the progression of the condition [rarediseases.info.nih.gov]

There is currently no disease modifying treatment available. [biotech-finances.com]

Prognosis Prognosis depends on the type of GM1 gangliosidosis and is extremely poor in the severe infantile form and variable in the chronic adult form of the disease. [orpha.net]

(I've seen mongolian spots on Evan's body much more than Eli's) Prognosis/Life Expectancy for GM1 Gangliosidosis Prognosis will vary based on how aggressively parents choose to uphold life, but most sources say the following: Type I Infantile Form Type [gm1gangliosidosis.blogspot.com]

Prognosis Type I - Infantile - Type 1 will usually manifest within the first 6 months of life: Death usually occurs during the second year of life because of infection and cardiopulmonary failure. [jennysgm1journey.org]

[…] has not yet advanced to human trials. [4] [7] Neurologic and orthopedic sequelae may prevent adequate physical activity, but affected individuals may benefit from physical and occupational therapy. [4] Last updated: 8/6/2012 The long-term outlook ( prognosis [rarediseases.info.nih.gov]

Prognosis Infantile (type 1): Death usually occurs during the second year of life because of infection and cardiopulmonary failure. [1] Juvenile (type 2): Death usually occurs before the second decade of life. [1] Adult (type 3): Phenotypic variability [emedicine.medscape.com]

Their etiology is not precisely century with the first clinical recognition of known, so we have included chapters that dis symptoms and patterns for diagnosis of car cuss many aspects of congenital cardiac mal diovascular diseases. [books.google.com]

Etiology The disorder is caused by mutations in the GLB1 gene (3p22.3) coding for beta-galactosidase. To date, more than 165 mutations have been identified. [orpha.net]

A 6-week-old girl was admitted for worsening generalized edema of unknown etiology. She was the 2,880-g product of a 32-week gestation to a 32-year-old G 1 P 1 woman. [healio.com]

Summary Epidemiology The disorder is panethnic but worldwide prevalence is not known. Prevalence at birth is estimated to be approximately 1:100,000 to 200,000 live births. [orpha.net]

[…] mitochondrial mass, morphology, and function. [12] Altered mitochondrial morphology could lead to a reduced availability of ATP at synapses, leading to some of the impaired neurotransmission and neuronal degradation seen in lysosomal storage disorders. [13, 12] Epidemiology [emedicine.medscape.com]

Adult (type 3) : The adult subtype is marked by normal early neurologic development with no physical stigmata and subsequent development of a slowly progressive dementia with parkinsonian features, extrapyramidal disease, and dystonia.1-3 Pathophysiology [bhj.org.in]

[…] history of ET and positive response to propranolol, [9] as well as cases of PWT and writers cramp in the same patient described in the literature. [7] The clinical features noted in our patient at least make a strong argument for dystonia being the pathophysiological [movementdisorders.org]

Adult (type 3): The adult subtype is marked by normal early neurologic development with no physical stigmata and subsequent development of a slowly progressive dementia with parkinsonian features, extrapyramidal disease, and dystonia. [3, 4, 5] Pathophysiology [emedicine.medscape.com]

Rapidly find the answers you need with separate sections on diseases and disorders, differential diagnosis, clinical algorithms, laboratory results, and clinical preventive services, plus an at-a-glance format that uses cross-references, outlines, bullets [books.google.com]

Prevention and testing is the only dependable and preventative solution for Tay-Sachs disease. Works Cited (Reference) [1] Andersen, Leisha M. “Tay-Sachs disease.” [scholieren.com]

[…] treatment due to its success in other lysosomal storage disorders. [4] Active research in the areas of enzyme replacement and gene therapy for the condition is ongoing but has not yet advanced to human trials. [4] [7] Neurologic and orthopedic sequelae may prevent [rarediseases.info.nih.gov]

A study has demonstrated in a GM1 gangliosidosis mouse model treated with NOEV a marked increase in enzyme activity and a reduction in CNS storage of GM1 ganglioside with prevention of neurological deterioration [6, 7]. [medresearch.in]