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

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

DISCUSSION In the present study we describe a family in which an early onset, non-progressive, mild form of cerebellar ataxia is associated with a reciprocal translocation t(8;20)(p22;q13). [jmg.bmj.com]

• Splenomegaly

  Fat malabsorption symptoms, hypocholesterolemia, hypotriglyceridemia, acanthocytosis, Friedreich-like ataxia, neonatal onset, absence of cerebellar atrophy Multisystem [ 95 ] Nieman Pick type C NPC1 257220 Vertical supranuclear ophtalmoplegia, ataxia, splenomegaly [cerebellumandataxias.biomedcentral.com]

• 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]

  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 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]

  LISSENCEPHALY ( AGYRIA – absent gyri, smooth cortical surface/ PACHYGYRIA – few, course gyri) Disorders of cell migration; arrest of migration of neuroblasts from periventricular matrix to cortex Characteristic facial appearance: prominent forehead, short [brainaacn.org]

• Kayser-Fleischer Ring

  […] spine Electro diagnostic tests  EMG/NCV, EEG, evoked potentials, ERG Tests of autonomic dysfunction  Tilt-table tests, sympathetic skin responses and other tests Ophthalmologic examination  Pigmentary retinopathy, macular degeneration,  cataracts, Kayser-Fleischer [slideshare.net]

• Xanthoma

  Skin is affected by xanthelasmata and tendon xanthomas. Onset varies from ages 2-52 years and usually occurs in people younger than 20 years; it slowly progresses over decades. [emedicine.medscape.com]

  […] between phospholipid surfaces[ 99 ]. (3) Cerebrotendinous xanthomatosis: Cerebrotendinous xanthomatosis is a sterol storage disorder, characterized by abnormal accumulation of cholesterol and cholestanol in neural and other tissues, thus causing tendon xanthomas [wjgnet.com]

  ARSACS Pes Cavus, Amyotrophy, Spasticity, extensor Plantar, cogitive Impairment Saccadic Intrusion, Hypermyelinated Retinal fibers - MRI-Cerebellar Atrophy + WMH CTX Pes Caus Amyotrophy, Spasticity, myoclonus, Parkinsonism Psychiatric Impairment,Tendon Xanthomas [slideshare.net]

  Table 1 Proposed new list of autosomal recessive ataxias CTX CYP27A1 213700 Dementia, paresis, tendon xanthomas, atherosclerosis, cataracts, elevated cholestanol level, childhood onset, variable cerebellar atrophy, cerebellar or cerebral leukodystrophy [cerebellumandataxias.biomedcentral.com]

• Myopathy

  […] related, associated with mutation in the CRYAB gene Myopathy, distal Myopathy, distal with anterior tibial onset Myopathy, distal, Tateyama type Myopathy, early-onset with fatal cardiomyopathy Myopathy, lactic acidosis, and sideroblastic anemia Myopathy [qlinics.com]

  Distal myopathy with anterior tibial onset Distal myopathy with early respiratory muscle involvement Distal myopathy with posterior leg and anterior hand involvement Distal myopathy, Welander type Distal myotilinopathy Distal nebulin myopathy Distal [se-atlas.de]

  E-2529 149 Metabolic Myopathies E-2547 150 Inflammatory Myopathies E-2595 151 Channelopathies E-2605 152 Management of Children with Neuromuscular Disorders E-2626 153 Endocrine Disorders of the Hypothalamus and Pituitary in Childhood and Adolescence [books.google.com]

  ZASP related Myopathy Myopathy due to Muscle Phosphoglycerate Mutase Deficiency Myopathy, Desmin related Myopathy, Distal, with Rimmed Vacuoles Myopathy, Early-onset and Progeria Myopathy, Mitochondrial, Late-onset Myopathy, Mitochondrial, with Diabetes [sequencing.com]

  Titin mutation segregates with hereditary myopathy with early respiratory failure. Brain 2012, 135 (6), 1695-1713. [ncl.ac.uk]

• Muscle Hypotonia

  […] syndrome Multiple mitochondrial dysfunctions syndrome Multisystemic smooth muscle dysfunction syndrome Muscle hypertrophy Muscle-eye-brain disease, POMK related Muscular dystrophy Muscular dystrophy, Becker type Muscular dystrophy, congenital, LMNA related [qlinics.com]

• Psychomotor Retardation

  Exome sequencing reveals a homozygous SYT14 mutation in adult-onset, autosomal-recessive spinocerebellar ataxia with psychomotor retardation. Am J Hum Genet. 2011;89:320–7. [cerebellumandataxias.biomedcentral.com]

  […] be due to traction caused by myelomeningocele or hydrocephalus; may be a dysgenesis of the brainstem Associated with congenital hydrocephalus, spina bifida, myelomeningocele, severe psychomotor retardation; in “asymptomatic” cases, adults may present [brainaacn.org]

  […] and autistic features Mental retardation X-linked, SMARCA1 related Mental retardation X-linked, syndromic, Claes-Jensen type Mental retardation X-linked, syndromic, Lubs type Mental retardation X-linked, Turner type Mental retardation Mental retardation [qlinics.com]

  retardation syndrome Autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome Autosomal recessive cerebellar ataxia-saccadic intrusion syndrome Autosomal recessive cerebelloparenchymal disorder type 3 Autosomal recessive [se-atlas.de]

• 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]

  Dyssynergia (impaired synergistic movements of agonists and antagonists), dysmetria (difficulty in judging distance of the target) and dysdiadochokinesis are cerebellar abnormalities of movement. [jpgmonline.com]

• Hyperreflexia

  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]

  […] 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]

  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]

• Cerebellar Sign

  Signs of cerebellar ataxia Pigmentory retinal degeneration Ophthalmoplegia pure cerebellar syndrome Signs of cerebellar ataxia Pyramidal features Extrapyramidal signs amyotrophy ADCA -I ADCA-II ADCA-III SCA -1, 2, 3, 4, 8, 12, 13, 17, 18*, 19/22*, 20* [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]

  This is an adult with slowly progressive cerebellar ataxia and slow saccades. Examination confirms a pancerebellar syndrome with slow saccades and pyramidal signs. [jpgmonline.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]

  cerebellar ataxia, childhood or teenage onset, white matter changes in the internal capsule Spasticity predominant [ 109, 110 ] SPG7 SPG7 607259 Spasticity, pyramidal signs, cerebellar signs, optic neuropathy, ptosis, teenage or adult onset, cerebellar [cerebellumandataxias.biomedcentral.com]

• Oscillopsia

  Episodic ataxia type is characterized by attacks of gait ataxia, poor balance, nausea, vomiting, and sometimes particular eye movement disorders that is referred to as oscillopsia. [epilepsygenetics.net]

[…] 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]

• Hypoalbuminemia

  […] like AAA ATPase 2 spinocerebellar ataxia 28 AFG3L2 SPAX5 604581 315 alpha tocopherol transfer protein ataxia (Friedreich-like) with vitamin E deficiency tocopherol (alpha) transfer protein TTPA AVED 600415 12404 aprataxin ataxia 1, early onset with hypoalbuminemia [ukgtn.nhs.uk]

  […] recessive) 10q23.3-q24.1 Infantile ataxia, sensory neuropathy; athetosis, hearing deficit, ophthalmoplegia, optic atrophy; primary hypogonadism in females Ataxia with oculomotor apraxia type 1 (AOA1) / Early-onset ataxia with oculomotor apraxia and hypoalbuminemia [bcm.edu]

  […] 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 with oculomotor apraxia type 1 (AOA1) FRDA-like hypoalbuminemia [emedicine.medscape.com]

  43 AFG3L2 * Spastic ataxia, Spinocerebellar ataxia AD/AR 22 40 AHI1 Joubert syndrome AR 62 93 ALDH5A1 Succinic semialdehyde dehydrogenase deficiency AR 16 70 ANO10 Spinocerebellar ataxia AR 19 18 APTX Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia [blueprintgenetics.com]

  Early-onset ataxia with ocular motor apraxia and hypoalbuminemia is caused by mutations in a new HIT superfamily gene. Nat Genet. 2001;29:184–8. [cerebellumandataxias.biomedcentral.com]

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]

DIAGNOSTIC AND TREATMENT Victoria Sacara, Elena Scvortova,. Duca, N. Usurelu, V. [vdocuments.mx]

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]