Olivopontocerebellar atrophy (OPCA) is a progressive disease, the sporadic form of which is now known as multiple system atrophy with cerebellar features (MSA-C), a subtype of multiple system atrophy (MSA). Its etiology is unknown. The inherited form of OPCA does not follow a single inheritance pattern which is, although, frequently autosomal dominant. Patients who present with the inherited form may have evidence of the illness in their family history. OPCA usually occurs in the middle aged, but the inherited form may develop in younger individuals. It rarely transpires after the seventh decade of life [1].

OPCA results from atrophy of structures in the brainstem and the cerebellum, thus its symptomatology is based on the dysfunction of these areas. There are several systems affected by OPCA, and the severity of symptoms worsens as the disease progresses. Autonomic dysregulation, if present, includes postural hypotension and gastrointestinal upset [2]. Genitourinary complaints range from urinary symptoms such as retention or incontinence to sexual dysfunction [3]. Pain may be experienced by a minority of patients.

Neurological symptoms and signs include worsening ataxia (one of the earliest signs), dysarthria, uncoordinated limb movements, unstable gait, hyperactive reflexes, and additional pyramidal as well as extrapyramidal manifestations [4]. Signs of parkinsonism such as cogwheel rigidity, postural instability, and tremor may be observed as the disease progresses. In addition, cognitive impairment and neuropathy have been reported.

Ocular dysfunction has been described, in the form of nystagmus, abnormal saccadic eye movements, as well as eye pathologies such as retinopathy [1]. Patients may experience dysphagia and recurrent laryngeal nerve paralysis, which causes stridor and can be rapidly fatal [5]. They are also at risk of aspiration, malnutrition, and traumatic injury from falls.

Patients with OPCA are prone to a number of sleep disturbance disorders such as rapid eye movement (REM) sleep behavior disorder RBD [6]. Furthermore, they have an increased susceptibility to psychiatric conditions such as depression and dementia.

• Fatigue

  Some patients also have fatigue and/or trouble with sleep. Generally symptoms of OPCA begin in mid-adult life and progress slowly over the course of many years. You can read more about hereditary and sporadic OPCA/ataxia. [alyshia.com]

  Very soon after beginning treatment for Multiple System Atrophy(MSA), Albert's coughing and choking while trying to drink were relieved, as was his muscle stiffness and fatigue. [puhuahospital.com]

  Some patients also have fatigue and/or trouble with sleep. Generally, symptoms of OPCA begin in mid-adult life and progress slowly over the course of many years. [rarediseases.org]

• Walking with a Cane

  About half of people with this condition need help walking within this time frame. That usually means walking with a cane, walker or another type of assistive device. [my.clevelandclinic.org]

• Periodontitis

  ___ → ___ periodontal; postmenopausal ___ → ___ postmenopausia; primary macular ___ of the skin → ___ macular primaria de la piel; primary vascular ___ of the skin → ___ primaria vascular de la piel; progressive cerebral ___ → ___ progresiva cerebral [thefreedictionary.com]

• Cerebellar Ataxia

  Middle-aged patients who initially present with a progressive cerebellar ataxia, in the absence of a known familial pattern are often referred to under the descriptive diagnosis of 'idiopathic' late onset cerebellar ataxia. [ncbi.nlm.nih.gov]

  Shoji Tsuji, Idiopathic Late Onset Cerebellar Ataxia (ILOCA), and Cerebellar plus Syndrome, Handbook of the Cerebellum and Cerebellar Disorders, 10.1007/978-94-007-1333-8_98, (2143-2150), (2013). [doi.org]

• Tremor

  Stiffness, spasms, sleep disorders, depression, and tremor may be improved with medication. [ninds.nih.gov]

  These patients may also develop a tremor, mostly an action tremor, occurring when the patient moves. [news-medical.net]

  This may include: Tremor medicines, such as those for Parkinson disease Speech, occupational and physical therapy Ways to prevent choking Walking aids to help with balance and prevent falls MSA-C slowly gets worse, and there is no cure. [nlm.nih.gov]

• Nystagmus

  There was no pathologic nystagmus or saccadic dysmetria. Magnetic resonance imaging showed cerebellar and lower brainstem atrophy virtually diagnostic of olivopontocerebellar atrophy. [ncbi.nlm.nih.gov]

  Additional features of MSA-c include dysphonia, dysphagia and other cerebellar features including limb ataxia and occulomotor dysfunction (sustained gaze-evoked nystagmus, positional down-beat nystagmus). [orpha.net]

  Ocular dysfunction has been described, in the form of nystagmus, abnormal saccadic eye movements, as well as eye pathologies such as retinopathy. [symptoma.com]

• Cerebellar Disease

  Significant decreases in cerebellin and CRH concentrations were found in the cerebellar hemisphere of these diseases compared with controls. [ncbi.nlm.nih.gov]

  CoQ10 deficiencies present as mitochondrial diseases, symptoms including encephalomyopathy, ataxia with cerebellar atrophy and can also involve renal failure. [journals.plos.org]

Diagnosis of olivopontocerebellar atrophy (OPCA) entails:

• History: A family history of OPCA should be inquired as well as a history of symptoms experienced by the patient.
• Physical examination: This should include a thorough neurological exam.
• Genetic testing: The aid in the distinction between sporadic and hereditary OPCA.
• Imaging: This mostly consists of magnetic resonance imaging (MRI) scans, which may show signs of brain atrophy. A common sign is the "hot cross bun sign", which is present in over 80% of those with sporadic OPCA [7]. T2-weighted MRI, diffusion-weighted imaging (DWI), and diffusion tensor imaging (DTI) are the MRI techniques utilized [1].
• Further testing: This includes tests done to rule out other possible etiologies of the presenting symptoms.

Treatment There is no specific treatment for OPCA. Physicians may try different medications to treat the ataxia, tremor, and rigidity that are associated with the disorder. Other treatments are directed at specific symptoms. [ninds.nih.gov]

Treatment programs should be frequently monitored and adjusted based on a patient's progress. [en.wikipedia.org]

Prognosis There is no cure for OPCA. The disorder is slowly progressive with death usually occurring approximately 20 years after onset. x Prognosis There is no cure for OPCA. [ninds.nih.gov]

Our review suggests that the label "OPCA" is useful to designate a clinicopathological syndrome that has a variety of etiologies carrying a poor prognosis, particularly if associated with autonomic failure as occurs in MSA. [ncbi.nlm.nih.gov]

Further testing: This includes tests done to rule out other possible etiologies of the presenting symptoms. [symptoma.com]

Our review suggests that the label "OPCA" is useful to designate a clinicopathological syndrome that has a variety of etiologies carrying a poor prognosis, particularly if associated with autonomic failure as occurs in MSA. [ncbi.nlm.nih.gov]

Etiology The exact etiology of MSC-c is unknown while the presence of cytoplasmic aggregates of α-synuclein, primarily in the oligodendroglia, in combination with predominant neurodegeneration of the olivopontocerebellar structures are pathological hallmark [orpha.net]

Abstract Spinocerebellar degeneration or olivopontocerebellar degeneration denotes a group of disorders of various etiologies manifesting as degenerative changes of various part of the central nervous system. [unboundmedicine.com]

Etiology is unknown A rare neuroaxonal dystrophy, histologically characterized by axonal spheroids, iron deposition, lewy body (lb)-like intraneuronal inclusions and neurofibrillary tangles Spastic weakness of the muscles innervated by the cranial nerves [icd9data.com]

For a discussion of epidemiology and pathology, please refer to: multiple systemic atrophy (MSA). Clinical presentation Olivopontocerebellar degeneration presents predominantly with cerebellar and brainstem symptoms and signs. [radiopaedia.org]

Patient Epidemiology Analysis Olivopontocerebellar Atrophy (OPCA) market also provides you with detailed market analysis for patient analysis, prognosis and cures. [databridgemarketresearch.com]

Summary Epidemiology MSA-c is observed predominantly in patients from Asia. [orpha.net]

The pathophysiology of blepharospasm appears to involve an increased excitability of the interneurons of the blink and corneal reflexes. [ncbi.nlm.nih.gov]

The aim is to treat the symptoms and prevent complications. [nlm.nih.gov]

The NINDS supports and conducts a broad range of basic and clinical research on cerebellar degeneration, including work aimed at finding the cause(s) of OPCA and ways to treat, cure, and, ultimately, prevent the disease. [ninds.nih.gov]

1. Gilman S, Wenning GK, Low PA, et al. Second consensus statement on the diagnosis of multiple system atrophy. Neurology. 2008;71(9):670–676.
2. Wenning GK, Ben-Shlomo Y, Magalhães M, Daniel SE, Quinn NP. Clinical features and natural history of multiple system atrophy. An analysis of 100 cases. Brain. 1994;117(Pt 4):835–845.
3. Kirchhof K, Apostolidis AN, Mathias CJ, Fowler CJ. Erectile and urinary dysfunction may be the presenting features in patients with multiple system atrophy: a retrospective study. Int J Impot Res. 2003;15(4):293–298.
4. Iodice V, Lipp A, Ahlskog JE, et al. Autopsy confirmed multiple system atrophy cases: Mayo experience and role of autonomic function tests. J Neurol Neurosurg Psychiatry. 2012;83(4):453–459.
5. Isozaki E, Naito A, Horiguchi S, Kawamura R, Hayashida T, Tanabe H. Early diagnosis and stage classification of vocal cord abductor paralysis in patients with multiple system atrophy. J Neurol Neurosurg Psychiatry. 1996;60(4):399–402.
6. Shimohata T, Nakayama H, Tomita M, Ozawa T, Nishizawa M. Daytime sleepiness in Japanese patients with multiple system atrophy: prevalence and determinants. BMC Neurol. 2012;12:130.
7. Watanabe H, Saito Y, Terao S, et al. Progression and prognosis in multiple system atrophy: an analysis of 230 Japanese patients. Brain. 2002;125(Pt 5):1070–1083.