Tay-Sachs Disease: Symptoms, Diagnosis, and Treatment

Running head: NURSING
Nursing
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NURSING
Section 1
Tay-Sachs disease (TSD) is an autosomal recessive disease that falls under the
category of Ashkenazi Jews as this disease is common among the Eastern European Jews.
This is best known sphingolipidosis that affects approximately one out of 3600 population
from Ashkenazi Jewish ancestry. The affected infants are presented by 6 months of age with
symptoms like poor feeding, lethargy and floppiness. It is a progressive mental disorder some
of the prominent symptoms and signs of the disease include motor deterioration, blindness,
hepatosplenomegaly, bone lesions, pigmentation indifference to pain, emotional liability, lack
of tears and hyperhidrosis (Hussein et al., 2018). The loss of the developmental milestones or
developmental regression mainly becomes apparent during the second half of the first year of
disease development. As the feeding becomes increasingly difficulty, the infant progressively
deteriorates along with visible signs of visual impairment, deafness, spasticity those
progresses to rigidity. Death mainly occurs by the age of 3 due to respiratory infection
(Schneck & Volk, 2017).
The diagnosis of the TSD is supported clinically by the presence of a "cherry-red"
spot at the centre of the macula of fundus. The biochemical confirmatory test done for TSD is
demonstrated by decreased level of hexosaminidase A (Hex A) levels in the serum, or
cultured fibroblasts or white blood cells. Hex-A is mainly present in chromosome 15,
inheritance of the faulty gene, leads to manipulation of the gene in the chromosome 15
leading to generation of faulty Hex-A enzyme. Faulty Hex-Z enzyme has reduced activity.
The reduced activity of hexosaminidase A arises due to the deficiency of alpha subunit of the
enzyme beta-hexosaminidase that leads to the deposition of sphingolipid, GM2 ganglioside.
Deficiency of beta-subunit of the beta-hexosaminidase leads to the development of decreased
activity of the hexosaminidase B isozyme and thereby causing other GM2 gangliosidosis like
the Sandhoff diseases. The clinical presentation of TSD and Sandhoff diseases is identical
(Hussein et al., 2018).
The juvenile (subacute), chronic, and adult-onset variants of hexosaminidase A
deficiency generally have shows late onsets. The late onset of the disease is characterized by
slower disease progression. It is also associated with diverse neurological complications like
progressive dystonia, motor neuron disease and spinocerebellar degeneration. A bipolar form

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NURSING
of psychosis is highlighted in some individuals who have adult-onset of the disease (Schneck
& Volk, 2017).
Deik and Saunders‐Pullman (2014) stated that treatment for this genetic disorder. The
treatment options are available for the management of the signs and symptoms or clinical
manifestations of the disease. Treatment is mainly supportive and is directed towards
delivering proper nutrition, managing the water content of body and protecting the airway
constrictions or infection and effective control of seizures. The control of seizures is mainly
achieved by the use of conventional antiepileptic drugs like phenytoins, benzodiazepines,
phenytoins, and/or barbiturates. The dosage, route and time of administration of the drugs
vary with the type and severity of seizures. Conventional antipsychotic medications and
antidepressant therapy is used for the individuals with adult onset of hexosaminidase-A
deficiency along with psychiatric manifestations (U.S National Library of Medicine, 2019).
Recent pilot study conducted by Osher et al. (2015) was based on identification of the
effective treatment for the management of the late onset of TSD (LOTS). The authors mainly
choose Pyrimethamine (PMT) in order to modify the activity HexA. The results highlighted
that the cyclic dosage of PMT helps to increase HexA activity among the LOTS patients.
However, the observed increase is repeatedly transient and it is not directly associated with
the discernible beneficial neurological or other psychiatric effects.
According to Lew et al. (2015), the Australian Jewish community who reside in
Melbourde and Sydney are mainly affected by the disease. The estimated number of the
effected individual includes 97,300 during 2011 as per the Australian Bureau of Statistics
Census of Population and Housing. The majority of the Australian Jews are the carrier of the
TSD disease and the frequency is estimated to be approximately one among 25.
Section 2
TSD is a rare genetic disorder that is inherited in an autosomal recessive form. Such
that when both the parents (carrier) have one recessive gene for TSD (carrier), there is 25%
of change of giving birth to diseased child.
Rr (carrier parent) R (normal dominant gene) R (recessive gene)
Rr (carrier parent)
R RR (normal) Rr (carrier)
r rR (carrier) Rr (Diseased)