Autosomal Dominant spinocerebellar ataxia - case presentation .

 Case Description

A 49-year-old male, with a history of hypertension, a businessman by occupation, presented with involuntary movements of the head.

The patient was apparently asymptomatic till the year 2000, while watching television, he felt the back of the neck and head become stiff, and soon after, he experienced involuntary movements of his head, moving from side to side (The patient described It as if he was saying no with the movement of his head alone). They were insidious in onset and progressive in nature. Initially, the involuntary movements were visible only on careful observation. It lasted 5 to 10 seconds and happened 1-2 times a day, a few times a week. The involuntary movements of the head were associated with a pin-pricking sensation along his spine.

By the year 2005, the involuntary movements of the head increased in frequency, duration and severity such that the patient was unable to complete the task at hand. At this point, the patient visited a local physician but the medications did not provide relief. 

In 2006, the patient visited a higher centre, where the doctor prescribed Amitriptyline 0.25 mg and Clonazepam 0.5 mg once daily. These medications provided some relief for 3 months. After this the involuntary movements continued even after increasing the doses of medicines.  The patient also tried homoeopathic medication, but it did not provide any relief.

In 2008, the patient started experiencing reduced sleep, whenever he tried to rest, in the the supine position, the involuntary movements of the head reappeared, thus he had to lie down on his sides. The patient also started experiencing slurring of speech.

By the year 2012, the patient developed ataxia which was insidious in onset and progressive in nature. In a year, the patient was unable to walk without support. past pointing test was positive. He visited a doctor where an MRI was done and the patient was diagnosed with Autosomal Dominant Spinocerebellar degeneration. The patient was treated with Baclofen 5mg and clonazepam 0.5 mg. The patient experienced some relief from symptoms for a few months. He also started ayurvedic treatment, which was found beneficial, for slurred speech -which included chewing the roots of the plant piper longum. The patient stopped taking medication as it was not providing any relief.

In 2018 the patient was diagnosed with hypertension and was started on telmisartan 40 mg Once Daily. The patient also complained of constipation and consumes laxatives occasionally. The patient was started on Amitriptyline Hydrochloride 25 mg OD for symptomatic management.

There is no history of muscle weakness, abnormal eye movements, dysarthria, loss of sensations, or visual or hearing impairment.

There are no features of parkinsonism, epileptic seizures, or myoclonus.

The current treatment includes Amitriptyline Hydrochloride 25 mg OD, telmisartan 40 mg OD and physiotherapy.

 

Family History

 

 

 

 

 

 

 

 

 

 

Father: No known medical issue. Died in 2003.

Mother: diagnosed with Autosomal dominant Spinocerebellar degeneration at the age of 34 and passed away at the age of 35

Elder sister: Died in 2003 due to autosomal dominant spinocerebellar ataxia at the age of 41

Elder brother: diagnosed with Autosomal dominant Spinocerebellar degeneration in 2003, died: in 2013 at the age of 42

Younger sister: Died: in 2021 due to autosomal dominant spinocerebellar ataxia at the age of 56

Wife: No medical issues

Daughter: No symptoms of disease till now.

 

Case discussion:

 

This case depicts the clinical progression of the disease.

Autosomal dominant spinocerebellar ataxias are progressive in nature characterised by slow degeneration of the cerebellum accompanied by degeneration of other parts of the central nervous system including the brainstem. [1]

A patient is known to have a genetic form of ataxia when there is

-        History of insidious onset

-        Slow progression

-        Bilaterally symmetrical findings on examination

-        Positive family history of ataxia in the patient’s parents. 1

In our patient, the patient’s mother was diagnosed with Autosomal Dominant Spinocerebellar Ataxia. and the history of ataxia is consistent with the above findings.

The global prevalence of spinocerebellar ataxia is noted as 3 in 100,000 [3]

Though prevalence studies in all countries note idiopathic cases of Spinocerebellar degeneration. Median Proportions of Patients with Spinocerebellar degenerations with unknown aetiologies include 38.5 per cent in India. While SCA2 is the most common subtype prevalent in India [2]

A study to find the severity and survival in Inherited spinocerebellar ataxias found that survival was 68 years in 223 patients with polyglutamine expansions, versus 80 years in 23 patients with other mutations. Disability was also more severe in patients with polyglutamine expansions.[4]

Clinical Features

All patients with this disease present with cerebellar ataxia, but the additional symptoms are variable. [5]

For Instance, according to the gene involved – [1]

Involved gene	Clinical features
SCA1	signs of widespread cerebellar and brainstem dysfunction with relatively little supratentorial involvement.
SCA2	ataxia, dysarthria, slow saccades, and peripheral neuropathy
SCA3	progressive ataxia, lid retraction, infrequent blinking, ophthalmoparesis, impaired speech and swallowing
SCA5	a relatively pure form of slowly progressive dominant cerebellar ataxia
SCA6	pure” cerebellar ataxia accompanied by dysarthria and gaze-evoked nystagmus with onset at 20 years.
SCA7	the universal presence of retinal degeneration with ataxia
SCA8	Prominent gait and limb ataxia, abnormalities of swallowing, speech and eye movements
SCA10	prominent cerebellar symptoms and seizures.
SCA11	pure” cerebellar syndrome with mild pyramidal signs slowly progressive form of gait and limb ataxia
SCA12	more common in India Age at onset ranges between 8 to 60 years first symptom typically being an action tremor of the arms. The tremor is eventually accompanied by head tremor, ataxia, and sometimes bradykinesia and sensory neuropathy.
SCA13	widely varying ages of onset Common features are ataxia, dysarthria, nystagmus, and occasionally hyperreflexia.
SCA14	slowly progressive ataxia with dysarthria in early adulthood In late-onset cases, SCA14 can manifest as a relatively pure cerebellar ataxia
SCA15/16	slowly progressive, pure cerebellar ataxia Dysarthria, horizontal gaze-evoked nystagmus, and impaired smooth movement of the eyes are present in some patients. Approximatelyone-thirdd of patients have a head tremor. The disease is caused by small genomic deletions encompassing the IPTR
SCA17	young-adulthood or mid-adulthood progressive gait and limb ataxia dementia, psychiatric symptoms, and varying extrapyramidal features, including parkinsonism, tremor, dystonia, and sometimes chorea, seizures
SCA20  the	initial symptom is dysarthria rather than gait ataxia, accompanied by palatal tremor, hypermetric saccades, and dentate calcification in the cerebellum
SCA27	early-onset ataxia manifest first with handtremorsr in childhood followed by progressive ataxia, cognitive difficulties, and psychiatric problems in the second and third decades of life.

 

According to the following findings, the clinical features in our patient are most consistent with SCA12.

MRI and genetic testing in addition to a through family history are usually done in order to diagnose a patient with Autosomal Dominant Spinocerebellar ataxia. On the MRI for diagnosis there should be presence of cerebellar atrophy and evidence of structural or vascular damage and or other lesions or associated neurodegeneration. [5] Our patient underwent MRI in the year 2012, and was diagnosed with Inherited Spinocerebellar ataxia, but due to lack of documentation, the patient lost the reports.

Genetic testing can be done in 5 distinct scenarios – diagnostic testing, predictive testing, prenatal testing carrier testing, and risk factor assessment. In reality, however, only diagnostic and predictive testing concern the practicing physicians. [1]

On the basis of genetic testing various SCA genes are identified, and clinical features are noted as depicted in the table above. However, in our patient the genetic testing was not done.

There is presence of very strong family history in our patient consistent with autosomal dominant spinocerebellar ataxia.

There is no effective treatment for genetic and idiopathic ataxia, hence includes symptomatic treatment an exercise therapy to maintain patient function. [5]

This was incorporated in the management of our patient as well.

Learning Outcomes

The following consultation occurred as telecommunication, A PAJR group was created. This group aimed at understanding the patient’s problems and providing the best possible solution in terms of pharmacotherapy and exercise therapy. In addition to this the patient also found a way to describe his day-to-day activities which added to the accountability of the patient to maintain a healthy diet, compliance with exercise and pharmacotherapy was checked on a daily basis.

SWOT analysis of this approach is as follows.

Strength:

-        The patient found a means of communication, to express his difficulties on a day-to-day basis, these were immediately managed.

-        The group provided a way to determine the family history which was very essential in the diagnosis.

-        The PaJR group acted as a means of compliance in terms of exercise and pharmacotherapy.

Weakness

-        There was lack of face-to-face communication and a lack of human touch acted as a major drawback especially in a disease wherein, the prognosis is not good.

-        Language barrier: As the patient speaks a different language than most doctors on the PaJR group, it hindered in immediate management.

-        Lack of investigations and lost reports were a major drawback.

Opportunities:

-        This approach allowed a detailed history and an understanding of how the disease affected the individual in terms of day-to-day activities

-        It acted as a platform for medical students to directly see how a patient would present with this disease

-        It also acted as a platform for doctors to discuss treatment and research modalities.

Threats:

-        Inability for members of the group to understand the patient’s problems due to a language barrier.

 

 

References

1.      Paulson, H. L. (2009). The spinocerebellar ataxias. Journal of Neuro-Ophthalmology: The Official Journal of the North American Neuro-Ophthalmology Society, 29(3), 227–237. https://doi.org/10.1097/WNO0b013e3181b416de

2.     van Prooije, T., Ibrahim, N. M., Azmin, S., & van de Warrenburg, B. (2021). Spinocerebellar ataxias in Asia: Prevalence, phenotypes and management. Parkinsonism & Related Disorders, 92, 112–118. https://doi.org/10.1016/j.parkreldis.2021.10.023

3.     Luis Ruano, Claudia Melo, M. Carolina Silva, Paula Coutinho; The Global Epidemiology of Hereditary Ataxia and Spastic Paraplegia: A Systematic Review of Prevalence Studies. Neuroepidemiology 1 April 2014; 42 (3): 174–183. https://doi.org/10.1159/000358801

4.     Monin, L., Marelli, C., Cazeneuve, C., Charles, P., Tallaksen, C., Forlani, S., Stevanin, G., Brice, A., & Durr, A. (2015). Survival and severity in dominant cerebellar ataxias. Annals of Clinical and Translational Neurology, 2(2), 202-207. https://doi.org/10.1002/acn3.156

5.     Shakkottai, V. G., & Fogel, B. L. (2013). Autosomal Dominant Spinocerebellar Ataxia. Neurologic clinics, 31(4). https://doi.org/10.1016/j.ncl.2013.04.006

6. Link to first case report - https://ssahamedicalcases.blogspot.com/2023/02/patient-history-pt-is-49-yrs-old-male.html?m=1