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

  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. You can read more about hereditary and sporadic OPCA/ataxia. [alyshia.com]

  […] v=zxPS0UVCKzg Fact Sheets In 2015, the Multiple System Atrophy Trust in the UK published 25 fact sheets on topics such as bowel management, continence, fatigue, Parkinson’s medications, monitoring blood pressure, saliva, driving, and useful equipment [brainsupportnetwork.org]

  Therapeutic Exercise/Activities: According to a study by Wedge, et al., gait training, transfer training, balance activities, and conditioning are necessary in reaching the goal of minimizing fatigue and risk for falling (safe transfers, etc.) [4] Resistance [physio-pedia.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]

• Heat Intolerance

  Urinary and bowel dysfunction Constipation Loss of bladder or bowel control (incontinence) Changes in sweat production Producing less sweat Heat intolerance due to reduced sweating Impaired body temperature control, often causing cold hands or feet Sleep [mayoclinic.org]

  Other possible symptoms of the cerebellar type of the disease are: constipation bladder or bowel incontinence decrease in sweat, tears, and saliva trouble maintaining an even body temperature (such as cold hands or heat intolerance) sleep disorders sexual [news-medical.net]

• Rigor

  This early evidence warrants further investigation using more rigorous methods. [ncbi.nlm.nih.gov]

• Stridor

  Although Stridor is more commonly found in multisystem atrophy, it is rarely seen in OPCA. We, here report a case of third decade onset of ataxia presenting with stridor. [ncbi.nlm.nih.gov]

  Patients may experience dysphagia and recurrent laryngeal nerve paralysis, which causes stridor and can be rapidly fatal. They are also at risk of aspiration, malnutrition, and traumatic injury from falls. [symptoma.com]

  Stridor is present in over one third of patients and has been reported previously as a presenting symptom in MSA: however previously reported patients have always gone on to develop other neurological symptoms. [cambridge.org]

• Abnormal Breathing

  breathing at night or a harsh breathing sound (stridor) Sexual dysfunction Inability to achieve or maintain an erection (impotence) Loss of libido Cardiovascular problems Color changes in hands and feet caused by pooling of blood Psychiatric problems [mayoclinic.org]

  As the neuron degeneration continues, symptoms are grouped into three categories: Autonomic malfunctions – drops in blood pressure, disturbance to sleep patterns due to abnormal breathing, abnormal sweating, decreased salivation and oil secretion causing [disability-benefits-help.org]

• Hoarseness

  Type MSA-P is associated with symptoms similar to initial Parkinson symptoms such as: Slow, stiff movements Tremors Clumsiness—loss of balance and coordination Shuffling Type MSA-C is associated with: Difficulty swallowing Problems speaking and hoarseness [womenscenteroftexas.com]

  Type MSA-P is associated with symptoms similar to initial Parkinson's symptoms such as: Slow, stiff movements Tremors Clumsiness—loss of balance and coordination Shuffling Type MSA-C is associated with: Difficulty swallowing Problems speaking and hoarseness [cancercarewny.com]

• Fecal Incontinence

  Indwelling catheters or urostomy for urinary incontinence. Colostomy for fecal incontinence. How long does MSA last? MSA is a permanent condition that lasts the rest of a person’s life. [my.clevelandclinic.org]

  Autonomic dysfunction includes impotence (the most common male sign), postural hypotension with syncope, urinary incontinence and retention, and fecal incontinence. [dizziness-and-balance.com]

• Muscular Atrophy

  gyrate atrophy of choroid and retina a rare hereditary, slowly progressive atrophy of the choroid and pigment epithelium of the retina; inherited as an autosomal recessive trait. myelopathic muscular atrophy muscular atrophy due to lesion of the spinal [medical-dictionary.thefreedictionary.com]

  Abstract Two sisters with infantile OPCA plus spinal muscular atrophy (SMA) are reported. Both showed severe hypotonia and psychomotor delay from birth, and in addition, nystagmoid eye movements and vision impairment were evident. [ncbi.nlm.nih.gov]

  Atrophy AR 5.2 17 of 91 SMN2 Spinal Muscular Atrophy AR 7.6 0 of 3 SNAP25 Congenital Myasthenic Syndromes AD 100 6 of 6 SOX10 Peripheral Demyelinating Neuropathy, Waardenburg Syndrome AD 99.74 139 of 147 STAC3 Native American Myopathy AR 99.98 5 of 5 [igenomix.es]

• Muscle Spasticity

  Additional clinical features may include MUSCLE RIGIDITY; NYSTAGMUS; RETINAL DEGENERATION; MUSCLE SPASTICITY; DEMENTIA; URINARY INCONTINENCE; and OPHTHALMOPLEGIA. [ucl.ac.uk]

  Additional clinical features may include MUSCLE RIGIDITY; NYSTAGMUS, PATHOLOGIC; RETINAL DEGENERATION; MUSCLE SPASTICITY; DEMENTIA; URINARY INCONTINENCE; and OPHTHALMOPLEGIA. [profiles.umassmed.edu]

• Diplopia

  Cerebellar Ataxia, Ataxia (with Retinitis Pigmentosa, deafness, vestibullar abnormality, and intellectual dysfunction), Hypertrophic interstitial neuritis, Marinesco-Sjogren Syndrome, Pelizaeus-Merzbacher disease, Periodic ataxia (with attacks of vertigo, diplopia [cmdg.org]

• Loss of Libido

  […] disorders Agitated sleep due to "acting out" dreams Abnormal breathing at night or a harsh breathing sound (stridor) Sexual dysfunction Inability to achieve or maintain an erection (impotence) Loss of libido Cardiovascular problems Color changes in hands [mayoclinic.org]

• Sexual Dysfunction

  Genitourinary complaints range from urinary symptoms such as retention or incontinence to sexual dysfunction. Pain may be experienced by a minority of patients. [symptoma.com]

  […] disorders Agitated sleep due to "acting out" dreams Abnormal breathing at night or a harsh breathing sound (stridor) Sexual dysfunction Inability to achieve or maintain an erection (impotence) Loss of libido Cardiovascular problems Color changes in hands [mayoclinic.org]

  dysfunction irregular heartbeats trouble with emotional regulation. [news-medical.net]

  Sexual dysfunction, including erectile dysfunction in people who have a penis. Rapid eye movement (REM) sleep behavior disorder, similar to sleep problems in Parkinson’s disease. Decreased sweating (anhidrosis). Vision problems. Dry mouth. [my.clevelandclinic.org]

• 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]

  They occur in the young to middle-aged and are characterized by ataxia, dysarthria, and tremors similar to those of parkinsonism. progressive neuromuscular atrophy hereditary muscular atrophy beginning in the muscles supplied by the fibular (peroneal) [medical-dictionary.thefreedictionary.com]

  For example medicines are prescribed for controlling tremors. Speech therapy helps the patient to improve his speech. [tandurust.com]

  These were characterized by the co-existence of rhythmic skeletal myoclonus and parkinsonian tremor. [ncbi.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]

• Agitation

  […] bowel dysfunction Constipation Loss of bladder or bowel control (incontinence) Changes in sweat production Producing less sweat Heat intolerance due to reduced sweating Impaired body temperature control, often causing cold hands or feet Sleep disorders Agitated [mayoclinic.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]

Is there any 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. [web.archive.org]

CONCLUSIONS: Buspirone treatment showed feasible efficacies for OPCA, while the combined treatment of estrogen and buspirone failed to improve, suggesting estrogen may not have further benefit in cerebellar dysfunction. [ncbi.nlm.nih.gov]

Treatments, therapies and strategies are available to help people with PSP and their families and carers to make the most of living with the condition. [parkinsonsvic.org.au]

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]

Treatment can include medications for specific symptoms, therapy to help with speech and balance, and use of walking aids The prognosis for Hereditary Olivopontocerebellar Atrophy is generally poor as the central nervous system deterioration leads to [dovemed.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]

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

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]

2016 2017 2018 2019 2020 2021 2022 2023 - Revised Code Billable/Specific Code Applicable To Mild cognitive disorder NOS Mild neurocognitive disorder of uncertain or unknown etiology Type 1 Excludes age related cognitive decline (R41.81) altered mental [icd10data.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]

Epidemiology Frequency The prevalence of OPCA is 3–5 cases per 100,000 individuals; this may represent approximately 5–6% of patients diagnosed with atypical Parkinson disease. [emedicine.com]

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]

Treatments and therapies are available to help manage symptoms of CBS, however there is no cure or ways to prevent it from occurring or slow its progression. [parkinsonsvic.org.au]

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. [web.archive.org]

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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.