Symptoma

Early-Onset Spastic Ataxia - Neuropathy Syndrome

SPAX5

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]

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]

These patients present with gait ataxia usually with headache and papilledema. Progressive hydrocephalus can also present with subacute-onset ataxia. [jpgmonline.com]

Clinical Characteristics Ocular Features: Optic atrophy is generally but not always present. Internuclear ophthalmoplegia and nystagmus have been reported. [disorders.eyes.arizona.edu]

  • Short Stature

    Disease Type of connection Spinocerebellar ataxia type 28 CLN3 disease Intermittent hydrarthrosis TRAPS syndrome Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia X-linked agammaglobulinemia 17q11 microdeletion [csbg.cnb.csic.es]

    Clinical features Early onset progressive ataxia Short stature Hypodontia Delayed puberty secondary to gonadal dysfunction Laboratory MRI shows white matter signal abnormalities consistent with central hypomyelination and cerebellar atrophy. [emedicine.medscape.com]

    stature - immunodeficiency Aceruloplasminemia Acquired angioedema Acquired ataxia Acquired central diabetes insipidus Acquired idiopathic sideroblastic anemia Acquired myasthenia gravis Acquired neutropenia Acquired peripheral neuropathy Acquired von [sanfordresearch.org]

    Additional features are progressive external ophthalmoplegia, progressive sensorineural hearing loss, peripheral neuropathy, foot deformity, basal ganglia calcification, short stature, deafness, OA and cervical lipomas. [neuroweb.us]

    stature DRPLA Rare (USA) 20% (Japan) 8 - 20 or 40 - 60's Early onset correlates with shorter duration Chorea, seizures, dementia, myoclonus EA1 Unknown 1st decade (2-15) Attenuates after 20 Myokymia; attacks last seconds to minutes; startle or exercise [slideshare.net]

  • Amyloidosis

    Arctic type Hereditary cerebral hemorrhage with amyloidosis, Dutch type Hereditary cerebral hemorrhage with amyloidosis, Flemish type Hereditary cerebral hemorrhage with amyloidosis, Iowa type Hereditary cerebral hemorrhage with amyloidosis, Italian [csbg.cnb.csic.es]

    […] hormone level Leprosy A Usually sensory Phenolic glycolipid-1 antibody, skin biopsy Lyme disease A — Lyme titers Lymphoma M Mainly axonal CBC, imaging Monoclonal gammopathy Usually chronic Urine and serum protein electrophoresis with immunofixation Amyloidosis [aafp.org]

    […] ataxia Albright hereditary osteodystrophy Alagille syndrome Alagille syndrome due to a NOTCH2 point mutation Alkaptonuria Allan-Herndon-Dudley syndrome Alpha-1-antitrypsin deficiency Alopecia Alopecia universalis Alport syndrome Amelogenesis imperfecta Amyloidosis [sanfordresearch.org]

  • Stridor

    Other signs may include respiratory irregularities ( inspiratory stridor ), severe antecollis (“sunflower” appearance or also called camptocormia) and sometimes mild eye movement and REM sleep abnormalities. Dementia occurs rarely. [neuroweb.us]

  • 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]

    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]

    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]

  • Neurologic Manifestation

    manifestations of ataxic disorders. [books.google.de]

    Neurologic manifestations and dermatitis herpetiformis can occur without histological evidence of bowel involvement. [neuroweb.us]

    manifestations beginning in childhood relate to complementation group Ataxia Telangiectasia Progressive ataxia plus Autosomal recessive 11q22-q23 ATM gene Product belongs to the P-13 kinase family of proteins involved in DNA damage recognition Ataxia [emedicine.medscape.com]

  • Motor Disturbances

    Kufs disease should be considered when seizures and motor disturbances complicate the early course of atypical dementia in middle adult life. [neuroweb.us]

    A recessively inherited form of presenile dementia with motor disturbances. Arch Neurol. 1967a; 16 :1–13. [ PubMed : 6024251 ] Cross HE, McKusick VA. The Troyer syndrome: a recessive form of spastic paraplegia with distal muscle wasting. [ncbi.nlm.nih.gov]

  • 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]

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

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]

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]

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]

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]

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

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]