Showing of 17 Percent of people who have these symptoms is not available through HPO Ataxia 0001251 Autosomal recessive inheritance 0000007 Cerebellar atrophy Degeneration of cerebellum 0001272 Clumsiness 0002312 Congenital onset Symptoms present at birth [rarediseases.info.nih.gov]

Metabolic diseases by age of presentation IV. Neuromuscular Disorders A. Neuropathies 1. [neupsykey.com]

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

Reduced diffusivity and abnormal MR spectroscopy peaks can also be present. [ajnr.org]

The bulbar signs especially dysarthria can be the presenting sign in up to 10% of patients. Patients usually present with symptoms in adulthood, usually in their 40s and 50s. Paroxysmal tonic upward gaze. [epilepsygenetics.net]

• Short Stature

  stature Decreased body height Small stature [ more ] 0004322 Spasticity Involuntary muscle stiffness, contraction, or spasm 0001257 Showing of 17 Last updated: 5/1/2019 Making a diagnosis for a genetic or rare disease can often be challenging. [rarediseases.info.nih.gov]

  […] encephalopathy with microcephaly Severe neurodegenerative syndrome with lipodystrophy Short stature-intellectual disability-eye anomalies-cleft lip/palate syndrome Short stature-webbed neck-heart disease syndrome Short ulna-dysmorphism-hypotonia-intellectual [se-atlas.de]

  stature SCA14 (autosomal dominant type 14) 19q13.4, Protein kinase C γ Pure ataxia in late-onset ( 39), myoclonus and ataxia in young-onset SCA15 (one Australian family) 3p24.2-pter (6q27 with CAG repeats) Pure ataxia, slowly progressive SCA16 (one Japanese [bcm.edu]

  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 and weight, anemia, and hypoglycemia Even when treated, tend to show executive deficits, ADHD symptoms and below average IQ SEX-LINKED CHROMOSOMAL DISORDERS x-linked disorders – may be rare in females if it is a recessive trait unless there is [brainaacn.org]

• Delayed Speech Development

  speech development Impaired speech and language development Impaired speech development Language delay Language delayed Language development deficit Late-onset speech development Poor language development Speech and language delay Speech and language [rarediseases.info.nih.gov]

• Constipation

  People with IOSCA may experience excessive sweating, difficulty controlling urination, and severe constipation. IOSCA also leads to vision and hearing problems that begin by about age 7. [diseaseinfosearch.org]

• Muscle Hypotonia

  hypotonia Ataxia telangiectasia like disorder Ataxia, posterior column, with retinitis pigmentosa Ataxia, progressive seizures, mental deterioration, and hearing loss, MT-TV related Ataxia-oculomotor apraxia Ataxia-telangiectasia Attention deficit-hyperactivity [qlinics.com]

• Decrease in Height

  […] body height Small stature [ more ] 0004322 Spasticity Involuntary muscle stiffness, contraction, or spasm 0001257 Showing of 17 Last updated: 5/1/2019 Making a diagnosis for a genetic or rare disease can often be challenging. [rarediseases.info.nih.gov]

• Hyperreflexia

  […] and language difficulties Speech delay [ more ] 0000750 Dysmetria Lack of coordination of movement 0001310 Gait ataxia Inability to coordinate movements when walking 0002066 Generalized hypotonia Decreased muscle tone Low muscle tone [ more ] 0001290 Hyperreflexia [rarediseases.info.nih.gov]

  The SCA7 is found to be associated with retinopathy or blindness where as the SCA 8 may cause hyperreflexia, decreased sense of vibration, as well as ataxic dysarthria.[6]. [explainmedicine.com]

  18p11.22-q11.2 Spinocerebellar ataxia (SCA29) OMIM #117360 Early onset, nonprogressive ataxia Vermian hypoplasia -- 18p11.22-q11.2 Spinocerebellar ataxia(SCA30) OMIM #613371 Dysarthria Lower limb hyperreflexia Hypermetric saccades -- 4q34.3-q35.1 [emedicine.medscape.com]

  mild SCA12 (autosomal dominant type 12) 5q31-q33, 66 CAG repeats in the promotor region, coding for protein phosphatase 2A Tremor, bradykinesia, parkinsonism, dementia, hyperreflexia SCA13 (single French family) 19q13.3-q13.4 (6q27 with CAG repeats [bcm.edu]

   Clinical features: – Parkinsonism • Asymmetric, postural/action tremor, early gait problems, dopa responsive – Cerebellar • Gait and limb ataxia, nystagmus, dysarthria – Autonomic • Orthostatic hypotension, bladder dysfunction, impotence – Other • Hyperreflexia [slideshare.net]

• Dysmetria

  […] language development Impaired speech development Language delay Language delayed Language development deficit Late-onset speech development Poor language development Speech and language delay Speech and language difficulties Speech delay [ more ] 0000750 Dysmetria [rarediseases.info.nih.gov]

  In addition to these eye movement abnormalities, patients had developmental delays and ataxia, nystagmus, dysarthria, tremor, dysmetria, and seizures The epilepsies. [epilepsygenetics.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]

  Clinical features of cerebellar disease  Ataxia (appendicular or axial)  Dysmetria  Dyssynergia  Dysdiadochokinesia  Rebound Phenomenon  Dysarthria  Tremor  Titubation and increased postural sway  Hypotonia  Asthenia  Nystagmus 12. [slideshare.net]

  Objective findings included ataxia, dysmetria on finger to nose and/or heel to shin test, tremor, nystagmus, and retained reflexes in the lower limbs. Neurological symptoms and the phenotype of the affected members are presented in table 1. [jmg.bmj.com]

• Cerebellar Sign

  Sensory Ataxia  Loss of distal joint, position sense  Absence of cerebellar signs such as dysarthria or nystagmus  Loss of tendon reflexes  Corrective effects of vision on sensory ataxia  Romberg sign • Sensory neuropathy and posterior column disease [slideshare.net]

  Clinical features Areflexia, proprioceptive dysfunction, loss of reflexes, and Babinski sign (prominent findings) By 5-10 years, gait disturbances and cerebellar signs Malabsorptive state in the early years with steatorrhea and abdominal distension Pes [emedicine.medscape.com]

  In two patients (III:12 and III:15) the cerebellar signs were accompanied by tremor of the hands, which can be described as postural tremor. [jmg.bmj.com]

  signs, optic neuropathy, ptosis, teenage or adult onset, cerebellar atrophy HSP [ 111, 112 ] SPG5 CYP7B1 270800 Spasticity, cerebellar and sensory ataxia, childhood or teenage onset, white matter lesions HSP [ 113, 114 ] SPG11 KIAA1840 604360 Spasticity [cerebellumandataxias.biomedcentral.com]

• Language Delays

  delay Language delayed Language development deficit Late-onset speech development Poor language development Speech and language delay Speech and language difficulties Speech delay [ more ] 0000750 Dysmetria Lack of coordination of movement 0001310 Gait [rarediseases.info.nih.gov]

  delays Some eventually decline to the point of dementia; some have autistic features – overall, highly variable (partly attributable to location of abnormal gene – chromosome 9 or 16) CNS correlate of skin lesions are cerebral tubers (“potato-like brain [brainaacn.org]

  delay Laboratory findings Elevated 4-hydroxybutyric acid in plasma, urine, and CSF High free GABA in CSF Cerebellar atrophy on MRI Treatment L-carnitine supplementation has been tried with improvement in muscle tone. [emedicine.medscape.com]

• Delayed Speech and Language Development

  speech and language development Deficiency of speech development Delayed language development Delayed speech Delayed speech acquisition Delayed speech development Impaired speech and language development Impaired speech development Language delay Language [rarediseases.info.nih.gov]

[…] develop microcephaly Of note: Rett’s, Angelman’s and Fragile X should all be differentials for autism KLINEFELTER’S SYNDROME (XXY) Seen in males Tall stature, but “eunuchoid” after puberty (often diagnosed after puberty, sometimes in context of fertility workup [brainaacn.org]

You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments. [rarediseases.info.nih.gov]

Treatment Treatment Options: No effective treatment has been reported but physical therapy, assistive hearing devices, and low vision aids might be helpful in selected patients. [disorders.eyes.arizona.edu]

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]

Even though there are numerous anti-epileptic drugs routinely used for the treatment of epileptic encephalopathies, Ohtahara syndrome seizures are usually difficult to control. [centogene.com]

Only supportive treatment is available. [emedicine.medscape.com]

Depending on the severity, types of seizures, and prognosis, EEs can be classified into several major subtypes: Early Infantile EE (EIEE) or Ohtahara Syndrome is one of the most severe forms of EE and is characterized by the following: Presentation within [centogene.com]

[…] that includes a cystic-like sac (meningomyelocele), which may or may not contain the spinal cord; 1-2: 1,000 live birth incidence Meningocele – meninges & skin protrude through lumbosacral spine defect to form CSF-filled bulge ( no spinal cord ) good prognosis [brainaacn.org]

Iordache, Alina-Costina Luca, Stefana-Maria Moisa UNFAVOURABLE PROGNOSIS FACTORS IN HEART FAILURE CHILDREN C. [vdocuments.mx]

Type 3 (Forbes-Cori): debrancher enzyme (1,6 glucosidase) deficiency associated with hypotonia, hypoglycemia, hepato-/cardiomegaly; prognosis is variable; skeletal and cardiac muscles affected. c. [neupsykey.com]

Distinguishing genetically heritable syndromes from isolated cases of vermian/cerebellar hypoplasia is important for both prognosis and genetic counseling. [ajnr.org]

Progressive multiple sclerosis MS is an inflammatory, demyelinating, neurodegenerative disorder of the central nervous system of unknown etiology. Peak age of onset in Primary progressive MS is around 40 years. [explainmedicine.com]

[…] associated with prematurity (especially as smaller premature infants continue to survive) and low birth weight; however, specific causes have not yet been identified Less than 15% result from a preventable obstetric injury CP is not a single entity and the etiology [brainaacn.org]

NGS platforms could circumvent a large number of limitations of GWAS, and offer powerful new tools to dissect out genetic contributions to disease etiology. [atm.amegroups.com]

Etiology- IgA/IgG Anti-Gliadin Ab, Anti-endomysial Ab and Ab against Tissue Trans-glutaminase Rx-Gluten free diet, I.V. [slideshare.net]

Cerebral palsy (perinatal encephalopathy): defined as a fixed, nonprogressive neurologic motor deficit of multiple etiologies; not necessarily cognitive impairment SUBTYPE MAIN INJURY CLINICAL FEATURES Spastic diplegia (most common) Preterm: PVL Spasticity [neupsykey.com]

The Global Epidemiology of Hereditary Ataxiaand Spastic Paraplegia: A systematic review of prevalence studies. Neuroepidemiology 2014; 24:174-183. Ashizawa T, Figueroa KP, Perlman SL, et al. [rarediseases.org]

The use of NGS in stroke Epidemiological studies suggest that genetic risk factors are important for stroke, and due to the heterogeneity of the stroke phenotype and the difficulties in obtaining large sample sizes, GWAS in stroke have lagged behind those [atm.amegroups.com]

"Cerebellar ataxia: Pathophysiology and rehabilitation". Clinical Rehabilitation. 25 (3): 195–216. doi : 10.1177/0269215510382495. PMID 21321055. "SCA2 information sheet from www.ataxia.org" (PDF). Archived from the original (PDF) on 2012-07-12. [en.wikipedia.org]

Koenig[ 10 ] proposed a classification of ARCA based on topographical and pathophysiological criteria, while in the next year the group of Filla proposed a pathogenic classification of the hereditary ataxias[ 11 ]. [wjgnet.com]

Central ataxia, Lower limb tremor, Psychosis, Dementia Damage to GABA-A receptor, Impaired Glucose metabolism,VitB1 deficiency MRI-Superior cerebellar and cerebral atrophy Alcohol abstinence,VitB1 replacement Pathophysiology MRI Treatment Toxins- Alcoholic [slideshare.net]

Finding the responsible mutation for autosomal recessive ataxia in this family will provide new tools towards diagnosis, understanding of the underlying pathophysiology of this disease, and finally and hopefully, better strategies for therapeutic intervention [jmg.bmj.com]

[…] peri-natally, infancy, or early childhood); .2% incidence Can be associated with prematurity (especially as smaller premature infants continue to survive) and low birth weight; however, specific causes have not yet been identified Less than 15% result from a preventable [brainaacn.org]

Early detection and treatment of hip dislocation and/or spine deformities prevent further complications. Surveillance includes evaluation for feeding difficulties and modification of diet to reduce risk of aspiration. Genetic counseling. [cmm.ucsd.edu]

Some can be suggested or diagnosed by imaging; others can be prevented by genetic counseling or treated if detected in early stages. [ajnr.org]

[…] craniovertebral junction anomalies, posterior fossa tumors,hydrocephalus, paraneoplastic cerebellar degeneration are fully or partially reversible after appropriate therapy is initiated early. [37], [38] The general goal in degenerative ataxias is to prevent [jpgmonline.com]

Defect Ataxia with selective vitamin E deficiency Chronic ataxia Autosomal recessive 8q13.1-q13.3 Mutated alpha-tocopherol transfer protein (ATTP) binds alpha-tocopherol, enhancing its transfer between separate membranes Vitamin E likely has a role in preventing [emedicine.medscape.com]