Hydroureter is often present. Diabetes insipidus may be present in patients with Wolfram syndrome 1 ( 222300 ) but has not been reported in patients reported with Wolfram syndrome 2. [disorders.eyes.arizona.edu]

Neurosyphilis may present as acute meningitis with cranial nerve dysfunction. We present the clinical and MR imaging findings in a case of neurosyphilis causing facial and vestibulocochlear nerve dysfunction. [ajnr.org]

It presents in the sixth or seventh decade of life and follows a chronic, progressive course. [aao.org]

Dysphagia is present and Rombergism and pseudoathetosis are observed. NCVs and nerve biopsy reveal demyelinating and axonal features. Anti-GD1b or GQ1b (consistently present) antibodies, IgM paraproteins and cold agglutinins are present. [neuroweb.us]

Fifty-three loci have presently been reported. The 17 deafness forms for which the genes have been identified are presented. [ommbid.mhmedical.com]

• Hearing Impairment

  Diseases related with Sensorineural hearing impairment and Cognitive impairment In the following list you will find some of the most common rare diseases related to Sensorineural hearing impairment and Cognitive impairment that can help you solving undiagnosed [mendelian.co]

  Hearing impairment. Hearing impairment shows genetic heterogeneity (see Deafness and Hereditary Hearing Loss Overview ). [ncbi.nlm.nih.gov]

  About 1 in 1000 infants has profound hearing impairment, with half thought to be 4 ... ... More on Deafness » Mental retardation : Mental retardation is an old term that is now considered impolite and not politically correct. [familydiagnosis.com]

  […] trauma -petrous bone fracture -ischemia in the territory of the AICA viral infection or inflammation cuasing severe vertigo with nausea and vomiting and hearing impairment and unsteadiness of gait 1. nystagmus 2. unilateral decreased hearing 3. gait ataxia [brainscape.com]

• Profound Intellectual Disability

  Hundreds of different “mutant” alleles pair causing profound intellectual disability. [richardsonthebrain.com]

Evaluation of Developmental Delay Physicians to start the workup while waiting for a specialist appointment. Results of the workup may facilitate more specific referrals. [mitchmedical.us]

Treatment Treatment Options: Treatment is mainly supportive for associated health problems. References Pages [disorders.eyes.arizona.edu]

It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. Our staff consists of biologists and biochemists that are not trained to give medical advice . [uniprot.org]

Foundation's mission is to increase awareness and acurate diagnosis of Charcot-Marie- Tooth (CMT) and related inherited neuropathies, support patients and families with critial information to improve quality of life, and fund research that will lead to treatments [mnglabs.com]

Just as you would seek treatment for any of these conditions, you should seek treatment for your hearing loss. Nothing can be done about my hearing loss. [eyeclinicwi.com]

September 8, 2016 April 1, 2017 We provide genetic diagnosis, treatment and management options for the following Ear, Nose & Throat diseases that are of genetic origin. [qlinics.com]

Neurological involvement is one of the most serious complications; it is thought to indicate a poor prognosis, with severe disability. Neurological manifestations may occur within 5 years of onset of the disease. [vasculitis.ca]

Favorable prognosis is indicated by preserved action potential preserved R1 or reappearance of R1 after 3 weeks. About 15% of patients will have permanent sequelae. [neuroweb.us]

The exact etiology is unknown. Similar to other forms of dementia, age is the most important risk factor for developing AD. Multiple genetic factors have been linked to its development. [quizlet.com]

However, the color vision defects that occur appear to be of central etiology. [aao.org]

Acoustical reflexes measure the stapedius and tensor tympani reflex-generated ear drum movement in Syndromes Primarily Involving Vestibular Function Similar symptoms may be seen with other etiologies. [mitchmedical.us]

Early ( 45 years) and late-onset RLS differ etiologically. [neuroweb.us]

Enzyme deficiencies are the cause of some cases of hereditary motor neuropathy, but in most cases the etiological basis of the disease is unknown. [britannica.com]

From the molecular data presently available, three main epidemiologic results emerge: (a) Mutations in the gene encoding a gap junction protein, connexin 26, account for about half of the cases of prelingual isolated deafness in Caucasian populations; [ommbid.mhmedical.com]

Each form is introduced by a brief history of how the gene was discovered, followed by the description of its clinical features and the established or putative role of the encoded protein, as well as the current hypotheses concerning the associated pathophysiological [ommbid.mhmedical.com]

Pinealoma Para Myokymia of the superior oblique muscle (typically with brief episodic ocular movements that cause subjective visual shimmering, ocular trembling, and/or tilted vision) Entrapment of the trochlear nerve by a vascular loop (similar to the pathophysiology [merckmanuals.com]

The underlying pathophysiology involves abnormal aggregation of β-amyloid protein. The characteristic pathologic features are amyloid plaques and neurofibrillary tangles. [aao.org]

However, during the transit of TIMM8A from cytoplasm into mitochondrion, the Cys residues probably coordinate zinc, thereby preventing folding and allowing its transfer across mitochondrial outer membrane. [abcam.com]

Division of STD Prevention, Centers for Disease Control and Prevention, Atlanta, GA. Available at: http://www.cdc.gov/nchstp/dstd/Syphilis_Facts.htm. Accessed October 4, 1999 ↵ STD Surveillance 1998 National Profile: Syphilis. [ajnr.org]

Most mutations in the TIMM8A gene result in the absence of functional TIMM8A protein inside the mitochondria, which prevents the formation of the TIMM8A/TIMM13 complex. [ghr.nlm.nih.gov]

(NCIt) Mild Cognitive Impairment : memory or other impairments that prevent (individuals) from sustaining an independent lifestyle. [richardsonthebrain.com]

Prevention of secondary complications: Intravenous immunoglobulin (IVIG) to prevent bacterial infections when agammaglobulinemia is present. [ncbi.nlm.nih.gov]