Presentation
Myopia is sometimes present. The ERG reveals generalized rod and cone dysfunction in some eyes, but may be normal in others. In many eyes the ERG is nonrecordable. Cataracts are frequently present. [disorders.eyes.arizona.edu]
Children with the NALD presentation may reach their teens, and those with the IRD presentation may reach adulthood. [mendelian.co]
Symptoms present at birth, and continuous. [102] Symptoms may be present at birth or early infancy. [102] Purpuric rash presenting at birth or in infancy. Vasculitis noted on skin biopsy. [autoinflammatory-search.org]
The sensitivity of general organic acid analysis is inadequate for recognizing the very low concentrations of mevalonic acid present in control urine. [ojrd.biomedcentral.com]
It presents specific management recommendations in a succinct outline format and includes protocols, step-by-step tests and procedures, and treatment algorithms. [books.google.de]
Entire Body System
- Short Stature
Additional features include short stature, strabismus, pes planus and, rarely, seizures. {ECO:0000269 PubMed:16080122}. Note=The disease is caused by mutations affecting the gene represented in this entry. [genecards.org]
Congenital trichomegaly, pigmentary retinal degeneration, and short stature. Patton MA, Harding AE, Baraitser M. Am J Ophthalmol. 1986 Apr 15;101(4):490-1. No abstract available. [ncbi.nlm.nih.gov]
Growth delay, including short stature is often seen. [123]. Not noted. [120] [98] Not noted. [120] [98] CRP, ESR, platelets may be elevated during flares. [autoinflammatory-search.org]
Delayed speech with pseudobulbar dysarthria and skeletal abnormalities (short stature, kyphoscoliosis) are commonly seen. [rarediseasesnetwork.org]
Mildly affected patients will develop short stature, progressive myopathy and, possibly, visual impairment due to uveitis, cataracts and tapetoretinal degeneration. The severity and frequency of the febrile attacks decline with age. [ojrd.biomedcentral.com]
- Fever
Dermographism. [13] Intermittent fevers can rise >40°C. Chills are uncommon. Fatigue and headaches are common with fevers. [autoinflammatory-search.org]
Hyperimmunoglobulinemia D and periodic fever syndrome; Periodic fever, Dutch type (HIDS, OMIM 260920). [ojrd.biomedcentral.com]
This deficiency can lead to one of two ends of a clinical spectrum: mevalonic aciduria (MVA) and hyperimmunoglobulinemia D with periodic fever syndrome (HIDS). [rarediseasesnetwork.org]
[…] ophthalmoplegia EMG: neuropathic changes Tics Spinocerebellar tract degeneration Olivopontocerebellar atrophy Orofacial dyskinesia Limb tremor Supranuclear ophthalmoplegia Muscle weakness Bipolar affective disorder Episodic abdominal pain Hepatomegaly Fever [mendelian.co]
[…] related mitochondrial DNA depletion syndrome, myopathic form TMAU, see Trimethylaminuria TMAuria, see Trimethylaminuria TMD, see Tibial muscular dystrophy TNDM type 1, see 6q24-related transient neonatal diabetes mellitus TNF receptor-associated periodic fever [herenciageneticayenfermedad.blogspot.com]
- Fatigue
These include criteria for the diagnosis of multiple sclerosis, dementia of Lewy-body type, frontal lobe dementias, chronic fatigue syndrome, and inflammatory neuropathies. [books.google.de]
You might have dizziness (vertigo), fatigue and muscle weakness during your episodes. In some cases, symptoms resolve in later life. Episodic ataxia doesn't shorten life span, and symptoms might respond to medication. [mayoclinic.org]
Eventually the patient may have symptoms such as nausea, vomiting, weight loss, fatigue, anemia and ultimately kidney failure. [rarediseases.org]
Some have headaches and fatigue with fever after cold exposure. [autoinflammatory-search.org]
Respiratoric
- Cough
One patient with cold-triggered or pregnancy triggered flares. [101] Not noted. [101] Anterior uveitis. [101] Occasional thoracic pain and one patient with a hacking cough during flares. [101] Abdominal pain, nausea and/or constipation. [autoinflammatory-search.org]
Gastrointestinal
- Vomiting
Cardinal manifestations from late infancy include mild to severe psychomotor retardation, recurrent crises (fever, vomiting and diarrhea), failure to thrive, hypotonia and myopathy. [ojrd.biomedcentral.com]
The fever may be provoked by vaccination, minor trauma, surgery or stress and is often associated with abdominal pain, vomiting, diarrhea and cervical lymphadenopathy. [rarediseasesnetwork.org]
Vomiting and diarrhea during flares. Splenomegaly, transaminitis. Inflammatory infiltrates are noted in the intestine. [autoinflammatory-search.org]
[…] encephalopathy Generalized-onset seizure Narrow forehead Cerebral visual impairment Dilated fourth ventricle Dementia Cognitive impairment Abnormal facial shape Distal muscle weakness Foot dorsiflexor weakness Paresthesia Hepatic failure Urinary urgency Vomiting [mendelian.co]
Eventually the patient may have symptoms such as nausea, vomiting, weight loss, fatigue, anemia and ultimately kidney failure. [rarediseases.org]
- Nausea
Eventually the patient may have symptoms such as nausea, vomiting, weight loss, fatigue, anemia and ultimately kidney failure. [rarediseases.org]
Risk for cardiac arrest and septicemia. [58] [61] Nausea during flares. [autoinflammatory-search.org]
Skin
- Macula
Macular pucker - scar tissue on the macula Macular hole - a small break in the macula that usually happens to people over 60 Floaters - cobwebs or specks in your field of vision NIH: National Eye Institute Amaurosis fugax (Medical Encyclopedia) Central [icdlist.com]
Fundus findings at an early stage include a normal macula or macular RPE granularity. [atlasrleye.com]
Code Applicable To Wet age-related macular degeneration macula (cystic) (exudative) (hole) (nonexudative) (pseudohole) (senile) (toxic) - see Degeneration, macula peripheral H35.40 ICD-10-CM Diagnosis Code H35.40 Unspecified peripheral retinal degeneration [icd10data.com]
These early changes consisted of fine pigmentary alterations throughout the retina, with predominant involvement of the posterior pole and coarse pigmentation of the macula. [synapse.koreamed.org]
granular appearing macula, vertical supranuclear gaze palsy AR NPC1, NPC2, SMPD1 #257200, #607616, #257220 NOONAN SYNDROME Epicanthal folds, myopia, ptosis, hypertelorism, downslanting palpebral fissures AD Numerous Multiple NORMAL-TENSION GLAUCOMA [eyewiki.aao.org]
- Skin Disease
Two other siblings with MOD deficiency showed severe skin disease since infancy. Patients also had evidence of inflammatory joint disease. [rarediseasesnetwork.org]
Eyes
- Visual Impairment
Diseases related with Ataxia and Visual impairment In the following list you will find some of the most common rare diseases related to Ataxia and Visual impairment that can help you solving undiagnosed cases. [mendelian.co]
Other diseases and conditions related to Cerebellar hypoplasia tapetoretinal degeneration may include: Cerebellar Hypoplasia Hypoplasia Abnormal electroretinogram Cognitive impairment Nystagmus Optic atrophy Visual Impairment Ataxia Tremor Congenital [familydiagnosis.com]
impairment 60 33 occasional (7.5%) Occasional (29-5%) HP:0000505 6 cognitive impairment 60 33 occasional (7.5%) Occasional (29-5%) HP:0100543 7 aplasia/hypoplasia of the cerebellum 60 33 occasional (7.5%) Occasional (29-5%) HP:0007360 8 pigmentary retinopathy [malacards.org]
It presents with early developmental delay, central and peripheral non-progressive visual impairment or asymptomatic retinal changes, hypotonia, non-progressive ataxia and nystagmus. [checkorphan.org]
- Visual Impairment
Diseases related with Ataxia and Visual impairment In the following list you will find some of the most common rare diseases related to Ataxia and Visual impairment that can help you solving undiagnosed cases. [mendelian.co]
Other diseases and conditions related to Cerebellar hypoplasia tapetoretinal degeneration may include: Cerebellar Hypoplasia Hypoplasia Abnormal electroretinogram Cognitive impairment Nystagmus Optic atrophy Visual Impairment Ataxia Tremor Congenital [familydiagnosis.com]
impairment 60 33 occasional (7.5%) Occasional (29-5%) HP:0000505 6 cognitive impairment 60 33 occasional (7.5%) Occasional (29-5%) HP:0100543 7 aplasia/hypoplasia of the cerebellum 60 33 occasional (7.5%) Occasional (29-5%) HP:0007360 8 pigmentary retinopathy [malacards.org]
It presents with early developmental delay, central and peripheral non-progressive visual impairment or asymptomatic retinal changes, hypotonia, non-progressive ataxia and nystagmus. [checkorphan.org]
- Central Scotoma
The disease usually begins at an early age, has a slow progression, and leads to decreased central visual acuity and central scotoma. At present, there are no treatment modalities to prevent disease progression. [atlasrleye.com]
Tritanomaly Red-green dyschromatopsia Insidious onset Leber optic atrophy Progressive external ophthalmoplegia Dyschromatopsia Severe visual impairment Optic neuropathy Central scotoma Cerebral atrophy Truncal ataxia Progressive Generalized seizures [mendelian.co]
- Progressive Loss of Vision
At 12 years of age, he first noticed progressive loss of vision and photophobia in both eyes. The best-corrected visual acuity was 20/200 bilaterally. [synapse.koreamed.org]
Psychiatrical
- Fidgeting
In a great majority they presented restlessness, fidgeting, sitting down and getting up on chairs, touching neighbouring objects by jerky and agitated movements. [docslide.com.br]
Neurologic
- Ataxia
MalaCards based summary : Tapetoretinal Degeneration with Ataxia, is also known as ataxia-tapetoretinal degeneration syndrome. [malacards.org]
Ataxia Exposure to Medications Ataxia Episodic Ataxia With Slurred Speech Episodic Ataxia Unknown Type Episodic Ataxia, Type 7 Episodic Ataxia Type 6 Episodic Ataxia Type 5 Episodic Ataxia Type 4 Episodic Ataxia Type 3 Episodic Ataxia Type 1 Epilepsy [explorer.opentrials.net]
Autosomal Dominant Ataxia Gene Each child of a parent with an autosomal dominant Ataxia gene has a 50% chance of inheriting the Ataxia gene. [ataxia.org]
Sporadic ataxia can take a number of forms, including multiple system atrophy, a progressive, degenerative disorder. Hereditary ataxias Some types of ataxia and some conditions that cause ataxia are hereditary. [mayoclinic.org]
Early onset ataxias (onset usually before 2 0 years) Friedreich's ataxia: i. [myslide.es]
- Cerebellar Ataxia
Variant Ataxia-telangiectasia Autosomal Dominant Cerebellar Ataxia, Deafness and Narcolepsy Autosomal Dominant Cerebellar Ataxia Type 4 Autosomal Dominant Cerebellar Ataxia Type 3 Autosomal Dominant Cerebellar Ataxia Type 2 Autosomal Dominant Cerebellar [explorer.opentrials.net]
In her classification of ataxia, Harding (1982) referred to progressive cerebellar ataxia with pigmentary macular degeneration as type II ADCA (autosomal dominant cerebellar ataxia). [mendelian.co]
ataxia, mental retardation, and dysequilibrium syndrome 1 (CAMRQ1) [MIM:224050]: A congenital, non-progressive cerebellar ataxia associated with disturbed equilibrium, delayed ambulation, mental retardation, cerebellar hypoplasia and mild cerebral gyral [genecards.org]
Cerebellar ataxia and cerebellar degeneration are common to all types, but other signs and symptoms, as well as age of onset, differ depending on the specific gene mutation. Episodic ataxia (EA). [mayoclinic.org]
- Dysarthria
[…] impairment Delayed speech and language development Seizures Dysmetric saccades Abnormal cerebellum morphology Cerebellar vermis atrophy Retinal dystrophy Neonatal hypotonia Gait disturbance Sensory impairment Progressive gait ataxia Scoliosis Spastic dysarthria [mendelian.co]
Dysarthria- dysphagia-FTT- ataxic gait- � Decreased visual acuity& bilateral cherry red spot � DTR +++ ; Babinski sign +; without pripheral neuropathy � EEG not significant ; CSF NL; VEP nl; SSEP ab.nl � MRI: priventricular hyperdense banb like sign & [professorsoltanzadeh.com]
Other signs and symptoms that might develop as the disease progresses include slow, slurred speech (dysarthria); fatigue; rapid, involuntary eye movements (nystagmus); spinal curvature (scoliosis); hearing loss; and heart disease, including heart enlargement [mayoclinic.org]
FGF14 13q34 SCA35 40-48 years Unknown gait and limb ataxia, dysarthria, ocular dysmetria, intention tremor, pseudobulbar palsy, spasmodic torticollis, extensor plantar responses, reduced proprioception and hyperreflexia China transglutaminase 6 ( TGM6 [en.wikipedia.org]
- Dysmetria
[…] delay Inappropriate laughter Agitation Delayed gross motor development Hallucinations Optic disc pallor Skeletal muscle atrophy Photophobia Rod-cone dystrophy Abnormality of the mitochondrion Difficulty running Macrocytic anemia Increased serum lactate Dysmetria [mendelian.co]
FGF14 13q34 SCA35 40-48 years Unknown gait and limb ataxia, dysarthria, ocular dysmetria, intention tremor, pseudobulbar palsy, spasmodic torticollis, extensor plantar responses, reduced proprioception and hyperreflexia China transglutaminase 6 ( TGM6 [en.wikipedia.org]
- Irritability
[…] atrophia-CR spot + priphral neuropathy- psychiatric disordes- without SNV gaze palsy • Leber congenital amaurosis:Retinitis pigmentosa- nephronophtiasis-CR spot+ without SNV gaze palsy Metachromatic leukodystrophy: � late infantile:the most- 12-18 mo- irritibility [professorsoltanzadeh.com]
Heredity (in about 30 O/o of cases) and constitutional disposition, manifested as higher irritability of the 44 vegetative nervous system, play an important role in the etiology of stuttering and cluttering. [docslide.com.br]
A few cases with seizures, meningismus, irritability and decreased level of consciousness. [46] Not noted to be from soJIA. [45] [46] Uveitis can be a complication from soJIA. [46] Serositis (especially pericarditis) is often seen. [autoinflammatory-search.org]
Workup
Visual Field Test
- Central Scotoma
The disease usually begins at an early age, has a slow progression, and leads to decreased central visual acuity and central scotoma. At present, there are no treatment modalities to prevent disease progression. [atlasrleye.com]
Tritanomaly Red-green dyschromatopsia Insidious onset Leber optic atrophy Progressive external ophthalmoplegia Dyschromatopsia Severe visual impairment Optic neuropathy Central scotoma Cerebral atrophy Truncal ataxia Progressive Generalized seizures [mendelian.co]
Treatment
Treatment Please input treatment information here. You can also add sub-section(s) at will. Labs working on this disease Please input related labs here. References Please input treatment information here. [pediascape.org]
Put the very latest scientific and genetic discoveries, diagnostic imaging methods, drug therapies, treatment recommendations, and surgical techniques to work in your practice. [books.google.de]
What can I expect my treatment to include? Before treatment begins, we have a comprehensive discussion with you about your options, and we perform a vision exam. [restore-vision.com]
Treatment Treatment Options: No treatment has been reported. [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]
Prognosis
Prognosis - Cerebellar hypoplasia tapetoretinal degeneration Not supplied. Treatment - Cerebellar hypoplasia tapetoretinal degeneration Not supplied. Resources - Cerebellar hypoplasia tapetoretinal degeneration Not supplied. [checkorphan.org]
Affected individuals should talk to their physician and medical team about their specific case, associated symptoms and overall prognosis. [rarediseases.org]
Prognosis In early-onset multisystemic MVA, the prognosis is poor, with about half of patients succumbing in infancy or early childhood [ 4 ]. [ojrd.biomedcentral.com]
Pulmonary hypoplasia is common which, together with kidney and liver disease, is responsible for the poor prognosis of most infants. [disorders.eyes.arizona.edu]
Increased understanding of the normal developmental pathways within neuronal development hopefully will lead to better treatment and prognosis for patients suffering from a wide variety of nonprogressive neurological conditions and neurodegenerative diseases [docplayer.net]
Etiology
Synonyms ataxia - tapetoretinal degeneration Etiology Please input defination information here. Diagnosis Please input defination information here. Symptoms Please input defination information here. Treatment Please input treatment information here. [pediascape.org]
Some of the syndromes with an unknown etiology have overlapping features (Norio and Raitta 1986), and it is only when the molecular etiology is known that a comprehensive classification system will be realized. [docplayer.net]
They are characterized predominantly by changes in the posterior pole of genetic etiology, and are often bilateral and symmetrical. [atlasrleye.com]
Cerebellar Ataxia X-linked Non Progressive Cerebellar Ataxia X-linked Cerebellar Ataxia Vitamin B12 Deficiency Ataxia Toxic Exposure Ataxia Unclassified Autosomal Dominant Spinocerebellar Ataxia Thyroid Antibody Ataxia Sporadic Adult-onset Ataxia of Unknown Etiology [explorer.opentrials.net]
Heredity (in about 30 O/o of cases) and constitutional disposition, manifested as higher irritability of the 44 vegetative nervous system, play an important role in the etiology of stuttering and cluttering. [docslide.com.br]
Epidemiology
Relevant External Links for VLDLR Genetic Association Database (GAD) VLDLR Human Genome Epidemiology (HuGE) Navigator VLDLR Atlas of Genetics and Cytogenetics in Oncology and Haematology: VLDLR No data available for Genatlas for VLDLR Gene The proprotein [genecards.org]
Epidemiology MVA is a rare disease. So far, approximately 30 patients have been reported. HIDS seems to be more common. In 2001, the number of reported HIDS patients was about 180 [ 6 ] and more patients have been identified since. [ojrd.biomedcentral.com]
Pathophysiology
Comprehensively updated to reflect everything you need to know regarding retinal diagnosis, treatment, development, structure, function, and pathophysiology, this monumental ophthalmology reference work equips you with expert answers to virtually any [books.google.de]
Peroxisome biogenesis disorders: Biological, clinical and pathophysiological perspectives. Dev Disabil Res Rev. 2013 Jun. 17(3):187-96. [Medline]. Aubourg P, Wanders R. Peroxisomal disorders. Handb Clin Neurol. 2013. 113:1593-609. [Medline]. [emedicine.medscape.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]
The pathophysiologic mechanisms causing the manifestations of SLS are thought to be due to accumulation of long-chain fatty alcohols and fatty aldehydes in cellular membranes. [rarediseasesnetwork.org]
Prevention
Prevention - Cerebellar hypoplasia tapetoretinal degeneration Not supplied. Diagnosis - Cerebellar hypoplasia tapetoretinal degeneration Not supplied. Prognosis - Cerebellar hypoplasia tapetoretinal degeneration Not supplied. [checkorphan.org]
At present, there are no treatment modalities to prevent disease progression. [atlasrleye.com]
Sufficient carbohydrates and fats should be consumed to provide energy and prevent the body from metabolizing its own proteins. [rarediseases.org]
Author Robert A Schwartz, MD, MPH Professor and Head of Dermatology, Professor of Pathology, Pediatrics, Medicine, and Preventive Medicine and Community Health, Rutgers New Jersey Medical School; Visiting Professor, Rutgers University School of Public [emedicine.medscape.com]