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Signs & Symptoms

Infantile Tay-Sachs Disease The infantile form of Tay-Sachs disease is characterized by complete or almost complete lack of hexosaminidase A enzyme activity. The disorder often progresses rapidly, resulting in significant cognitive and physical deterioration.

Infants may appear completely unaffected at birth. Initial symptoms, which usually develop between 3 and 6 months, can include mild muscle weakness, twitching or jerking of muscles (myoclonic jerks) and an exaggerated startle response, such as when there is a sudden or unexpected noise. The startle response may be partly due to an increased sensitivity to sound (acoustic hypersensitivity).

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Between six and 10 months, affected infants may fail to gain new motor skills. They may no longer make eye contact and there may be unusual eye movements. They may be listlessness and irritable. As affected infants age, they may experience slow growth, progressive muscle weakness and diminished muscle tone (hypotonia). Affected infants may also exhibit gradual loss of vision, involuntary muscle spasms (myoclonus), slow, stiff movements (spasticity) and the loss of previously acquired skills (i.e., psychomotor regression) such as crawling or sitting up.

A characteristic symptom of Tay-Sachs disease is the development of a macular “cherry red” spot. This ophthalmological finding emerges from abnormal accumulation of pale undigested material in the macula which contrasts to the thin foveal transparent background exposing the normal rich choroidal vasculature. This characteristic finding occurs is approximately 90% of individuals with infantile Tay-Sachs disease.

As affected infants age, more serious complications may develop including seizures, difficulty swallowing, loss of vision, paralysis and progressive hearing loss. Additional cognitive deficits may include confusion, disorientation and/or deterioration of intellectual abilities. Eventually, infants may become unresponsive to their environment and surroundings. By three to five years of age, life-threatening complications begin to occur such as aspiration pneumonia leading to respiratory failure.

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Juvenile (Subacute) Tay-Sachs Disease The onset of juvenile Tay-Sachs disease can be anywhere between 2 and 10 years of age. One of the first signs is often clumsiness and incoordination. This occurs because affected children have issues controlling their body’s movements (ataxia). Children tend to experience a progressive loss of speech, life skills and intellectual abilities. Affected individuals may or may not develop a cherry-red spot in the eyes. Degeneration of the optic nerves (optic atrophy) may occur. Some children may have retinitis pigmentosa, a progressive loss and degeneration of the cells in the retina where shapes and colors are first encoded. Affected children become less responsive to their environment and surroundings. Life-threatening complications usually occur around 15 years of age.

Late-Onset Tay-Sachs Disease The presentation and symptoms associated with late-onset Tay-Sachs disease vary greatly. Onset of the disease may vary from the late teens to any time in adulthood. This variability may occur even within affected members of the same family. For example, in a given family one person may have symptoms in their 20s, while another reaches into their 60s or 70s with relatively milder minor symptoms. The disorder progresses much slower than the infantile or juvenile forms of the disease.

Initial symptoms associated with late-onset Tay-Sachs disease may include progressive muscle weakness and wasting (neurogenic atrophy), incoordination and clumsiness from cerebellar dysfunction (ataxia) or acute psychiatric presentation. As affected individuals age, muscle twitching (fasciculation), cramps, weakness and muscle wasting progresses affecting preferentially the quadriceps and hip flexor muscles, and later, the triceps muscles. Patients need to lock their knees in hyperextension to be able to stand and support their weight. Failure to do so results in falls and eventually leads to the need for a device to assist with walking. Patients may exhibit tremors and progressive slurred speech (dysarthria). Difficulties swallowing (dysphagia) may emerge late in the disease. Some affected individuals experience acute psychiatric manifestations (mania, acute depression or psychosis) that may require emergency psychiatric care. Over time, cognitive difficulties including executive dysfunction and some memory difficulties might emerge.

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