GANGLIOSIDOSIS GM2 TYPE 2

SYMPTOMS

Gangliosidosis GM2 Type 2 is most commonly seen in babies. They seem normal at birth, but the symptoms arise when the baby turns 3 to 6 months. 

Among the warning signs are:

• Irregular bone growth
• Uncomfortable motions
• “Cherry-red” dots on the eyes
• Head enlargement (macrocephaly) or vital organ enlargement (organomegaly), especially in the liver and kidney
• Gradual loss of hearing
• Infections of the lungs
• Loss or slow development of motor abilities, such as crawling, turning over, sitting, etc.
• Muscular weakness, ataxia (difficulty regulating muscles), or muscle twitching (myoclonus).

As the condition progresses, newborns commonly experience:

• Deafness 
• Seizures
• Intellectual handicaps
• Paralysis
• Loss of vision
• Death at a young age

Some people get this condition later in life, infancy or maturity. In most cases, the signs are comparable but less severe.

DIAGNOSIS

Gangliosidosis GM2 Type 2 is diagnosed through the following procedures:

• Examining your symptoms and when they first appeared
• Reviewing your detailed history and ethnic heritage
• Conducting an examination of the body
• Blood tests to see if beta-hexosaminidase is present or not
• Checking the presence of gene mutation using a genetic test

TREATMENT

Gangliosidosis GM2 Type 2 has no known cure. Neverthless, you may use the following treatments to alleviate symptoms and keep individuals relaxed:

• Anticonvulsants to prevent seizures
• Proper diet
• Good hydration
• Efforts to maintain the airway’s openness

Other treatments are being researched to see whether they can assist, such as:

• Transplantation of bone marrow
• Genetic therapy 
• Substrate reduction treatment 
• Stem cell treatment 

A patient and their families may consult with geneticists or medical doctors. They may assist families in determining who else would have been checked for gene mutations.