In the present article, the authors describe clinical and neuroradiological findings that raised the suspicion of an ARSACS diagnosis in two female cousins with Germanic background from Rio Grande do Sul, Brazil. [moh-it.pure.elsevier.com]

A 52-year-old woman presented with early difficulty in gait, mostly spastic. The diagnosis was made when she was 15 years old. EMG demonstrated signs compatible with ARSACS. Electroencephalogram was normal. [ajnr.org]

Case Report A 28-year-old male patient presented with a history of unsteadiness while walking and frequent easy falls since 10 years of age. [jmgims.co.in]

Some people present with generalized weakness in infancy while others present with adult-onset weakness that may include proximal muscles and sensory loss. Many people’s first symptom is cramping in the legs. [cmtausa.org]

Occasionally patients will present with late-onset forms of this disease. [neuroweb.us]

• Onset in Infancy or Childhood

  Marinesco-Sjögren syndrome: Marinesco-Sjögren syndrome is a rare disorder with onset in infancy or childhood. Homozygosity mapping in two large consanguineous families of Turkish and Norwegian origin mapped the disease gene on chromosome 5q31[ 45 ]. [wjgnet.com]

• Dysmetria

  Tremor, dysmetria, and poor coordination of fine movements are often present. A sensorineural hearing loss has been found in several individuals. Peripheral neuropathy has been reported as well. [disorders.eyes.arizona.edu]

  Cardinal features - Cerebellar pathology – Stance and gait – Poor regulation and coordination of skilled movements (Dysmetria and dysdiadokinesia) – Eye movement disturbances – Altered Muscle tone (Hypotonia) – Speech (Dysarthria) 6. [slideshare.net]

  A slowly progressive cerebellar syndrome with various combinations of oculomotor disorders, dysarthria, dysmetria/kinetic tremor, and ataxic gait are key presenting features. [emedicine.medscape.com]

  When she was 8 years old, the physical examination of the girl revealed a slight dysarthria, dysmetria on a finger-to-nose test, slowing of fast repetitive movements, and increased tricipital reflex. [ajnr.org]

  Finger-nose and heel-knee-shin tests will demonstrate even mild limb ataxia, with terminal intention tremor and dysmetria (past pointing). Acute-onset ataxia Either due to cerebellar haemorrhage or infarction. [patient.info]

It is divided into the following sections: Overview Differential Diagnoses & Workup Treatment & Medication Follow-up Multimedia [hspersunite.org.au]

Treatment Treatment Options: No treatment has been reported. References Senanayake N. A syndrome of early onset spinocerebellar ataxia with optic atrophy, internuclear ophthalmoplegia, dementia, and startle myoclonus in a Sri Lankan family. [disorders.eyes.arizona.edu]

In addition, new neurophysiological and imaging techniques are discussed, along with an in-depth examination of the treatment and management protocols of ataxic diseases. [books.google.de]

Management and treatment Treatment is symptomatic, aimed towards the control of spasticity, and should include physiotherapy and pharmacotherapy (that may include spasmolytic drugs such as baclofen). [orpha.net]

CLOSE Medical Disclaimer The medical information on this site is provided as an information resource only, and is not to be used or relied on for any diagnostic or treatment purposes. [diseaseinfosearch.org]

Prognosis The period of latency before becoming wheelchair-bound is significantly longer in EOCARR than in FRDA, resulting in a better prognosis in patients with EOCARR than in those with FRDA. [orpha.net]

Establishing a precise diagnosis is important for clarifying the condition and its prognosis. [jmgims.co.in]

Prognosis [ edit ] Although HSP is a progressive condition, the prognosis for individuals with HSP varies greatly. It primarily affects the legs although there can be some upperbody involvement in some individuals. [en.wikipedia.org]

Management and prognosis This depends upon the underlying cause. [patient.info]

Beginning with an examination of the cerebellar region, and then progressing to a fresh perspective on the clinical aspects of the various forms of ataxia, this handbook gives clinicians a state-of-the-art reference for the management of the many etiologies [books.google.de]

Etiology The exact etiology of EOCARR is still unknown. However, molecular genetic analysis in a Tunisian family confirmed the genetic heterogeneity of this syndrome and mapped the gene locus to chromosome 13q11-12. [orpha.net]

Etiology Pathophysiology Clinical features Pure HSP is characterized by an insidious onset and slow progression of the following symptoms Patients with complicated HSP have all the features of pure HSP as well as additional neurological features, such [amboss.com]

Etiology The genetics of HSP are complex and heterogeneous. Over fifty spastic paraplegia gene (SPG) genetic loci have been identified to date. The mode of inheritance for HSP can be autosomal dominant, recessive, or X-linked. [now.aapmr.org]

A systematic approach begins with localization of the lesion to the peripheral nerves, identification of the underlying etiology, and exclusion of potentially treatable causes. [aafp.org]

[…] spastic ataxia-neuropathy syndrome - Autosomal recessive spastic ataxia type 5 - SPAX5 Classification (Orphanet): - Inborn errors of metabolism - Rare genetic disease - Rare neurologic disease Classification (ICD10): - Diseases of the nervous system - Epidemiological [csbg.cnb.csic.es]

Epidemiology References: [1] [2] [3] Epidemiological data refers to the US, unless otherwise specified. [amboss.com]

Summary Epidemiology The prevalence of EOCARR ataxia has been estimated to be around 1/100,000, and the birth prevalence at 1/48,000 births in North-western Italy. [orpha.net]

Case control studies and epidemiological studies, including genetic sequencing of ARCA, are needed in Korea. [e-jmd.org]

The global epidemiology of hereditary ataxia and spastic paraplegia: a systematic review of prevalence studies. Neuroepidemiology. 2014; 42(3):174-83. [invitae.com]

Etiology Pathophysiology Clinical features Pure HSP is characterized by an insidious onset and slow progression of the following symptoms Patients with complicated HSP have all the features of pure HSP as well as additional neurological features, such [amboss.com]

J Clin Endocrinol Metab 93:2084–2088 CrossRef PubMed Google Scholar Werner ER, Blau N, Thöny B (2011) Tetrahydrobiopterin: biochemistry and pathophysiology (review). [link.springer.com]

In this review, we summarise the clinical, genetic and pathophysiological features of this condition, and the investigations used in its diagnosis. [acnr.co.uk]

Pathophysiology [ edit ] The major feature of HSP is a length dependent axonal degeneration. [21] These include the crossed and uncrossed corticospinal tracts to the legs and fasciculus gracilis. [en.wikipedia.org]

Recent ultrastructural observations have not corroborated the hypothesis that hypermyelinated fibers constitute the basic pathophysiology of retinal streaks in ARSACS. [ncbi.nlm.nih.gov]

Collaborative Meta-Analysis of Randomised Trials of Antiplatelet Therapy for Prevention of Death, Myocardial Infarction, and Stroke in High Risk Patients. ‎ [books.google.es]

A regularly followed exercise regimen should incorporate daily or twice daily stretching and daily exercises to promote improved endurance and activity tolerance and to prevent deconditioning. [now.aapmr.org]

For patients with walking (gait) problems, canes, walkers, and wheelchairs will facilitate mobility and help to prevent falling and subsequent injury. A number of drugs are available to reduce some of the symptoms of HSP. [medschool.lsuhsc.edu]

Treatment [ edit ] No specific treatment is known that would prevent, slow, or reverse HSP. Available therapies mainly consist of symptomatic medical management and promoting physical and emotional well-being. [en.wikipedia.org]

Even though physical therapy does not either prevent or reduce degenerative changes to the person's spinal cord, it is believed that receiving regular therapy can play an important part in assisting people with HSP to maintain and increase their muscle [disabled-world.com]