Muscle weakness and blindness are primarily symptoms of which lysosomal storage disease?

Muscle weakness and blindness are primarily symptoms of which lysosomal storage disease?

• A. Niemann-Pick Disease
• B. Tay-Sachs Disease
• C. Krabbe's Disease
• D. Fabry's Disease

Answer: (C)

Krabbe's Disease is characterized by a deficiency in the enzyme galactocerebrosidase, which leads to the accumulation of psychosine, a toxic metabolite. This accumulation primarily affects the central nervous system, resulting in significant neurological decline. One of the hallmark features of Krabbe's Disease is profound muscle weakness due to demyelination of peripheral nerves and the spinal cord, impacting motor function. Additionally, the disease can lead to vision problems, potentially resulting in blindness, as it affects the optic nerves and other regions involved in vision. In contrast, other lysosomal storage diseases have different symptom profiles. For instance, Niemann-Pick Disease primarily presents with hepatosplenomegaly and neurological involvement but is not specifically associated with blindness and significant muscle weakness to the same extent as Krabbe's Disease. Tay-Sachs Disease leads to a progressive neurological decline, particularly around the age of six months, predominantly associated with cognitive impairment and lack of motor skill development, rather than muscle weakness in the sense observed in Krabbe's Disease. Lastly, Fabry's Disease is characterized by pain in the extremities, renal issues, and skin changes rather than significant muscle weakness and blindness. Thus, the unique combination of muscle weakness and potential

Krabbe's Disease is characterized by a deficiency in the enzyme galactocerebrosidase, which leads to the accumulation of psychosine, a toxic metabolite. This accumulation primarily affects the central nervous system, resulting in significant neurological decline. One of the hallmark features of Krabbe's Disease is profound muscle weakness due to demyelination of peripheral nerves and the spinal cord, impacting motor function. Additionally, the disease can lead to vision problems, potentially resulting in blindness, as it affects the optic nerves and other regions involved in vision.

In contrast, other lysosomal storage diseases have different symptom profiles. For instance, Niemann-Pick Disease primarily presents with hepatosplenomegaly and neurological involvement but is not specifically associated with blindness and significant muscle weakness to the same extent as Krabbe's Disease. Tay-Sachs Disease leads to a progressive neurological decline, particularly around the age of six months, predominantly associated with cognitive impairment and lack of motor skill development, rather than muscle weakness in the sense observed in Krabbe's Disease. Lastly, Fabry's Disease is characterized by pain in the extremities, renal issues, and skin changes rather than significant muscle weakness and blindness. Thus, the unique combination of muscle weakness and potential