Sensorineural hearing impairment, and Mental deterioration

Diseases related with Sensorineural hearing impairment and Mental deterioration

In the following list you will find some of the most common rare diseases related to Sensorineural hearing impairment and Mental deterioration that can help you solving undiagnosed cases.


Top matches:

Low match PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 2; PEOA2


Progressive external ophthalmoplegia is characterized by multiple mitochondrial DNA deletions in skeletal muscle. The most common clinical features include adult onset of weakness of the external eye muscles and exercise intolerance. Both autosomal dominant and autosomal recessive inheritance can occur; autosomal recessive inheritance is usually more severe (Filosto et al., 2003; Luoma et al., 2004).PEO caused by mutations in the POLG gene are associated with more complicated phenotypes than those forms caused by mutations in the ANT1 or C10ORF2 genes (Lamantea et al., 2002).For a general phenotypic description and a discussion of genetic heterogeneity of autosomal dominant progressive external ophthalmoplegia, see PEOA1 (OMIM ).

PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 2; PEOA2 Is also known as progressive external ophthalmoplegia, autosomal dominant 2

Related symptoms:

  • Hearing impairment
  • Sensorineural hearing impairment
  • Muscle weakness
  • Ptosis
  • Dementia


SOURCES: OMIM MESH MENDELIAN

More info about PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 2; PEOA2

Low match FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 2; FTDALS2


Related symptoms:

  • Hearing impairment
  • Ataxia
  • Sensorineural hearing impairment
  • Muscle weakness
  • Ptosis


SOURCES: OMIM MENDELIAN

More info about FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 2; FTDALS2

Low match HEREDITARY SENSORY NEUROPATHY-DEAFNESS-DEMENTIA SYNDROME


Hereditary sensory neuropathy type IE is an autosomal dominant neurodegenerative disorder characterized by adult onset of progressive peripheral sensory loss associated with progressive hearing impairment and early-onset dementia (summary by Klein et al., 2011).For a discussion of genetic heterogeneity of HSN, see HSAN1A (OMIM ).

HEREDITARY SENSORY NEUROPATHY-DEAFNESS-DEMENTIA SYNDROME Is also known as hsn ie|hsn1e|hereditary sensory neuropathy-sensorineural hearing loss-dementia syndrome|hsan1e|neuropathy, hereditary sensory, with hearing loss and dementia

Related symptoms:

  • Seizures
  • Hearing impairment
  • Ataxia
  • Sensorineural hearing impairment
  • Pain


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about HEREDITARY SENSORY NEUROPATHY-DEAFNESS-DEMENTIA SYNDROME

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Other less relevant matches:

Low match CEREBELLAR ATAXIA-AREFLEXIA-PES CAVUS-OPTIC ATROPHY-SENSORINEURAL HEARING LOSS SYNDROME


Cerebellar ataxia - areflexia - pes cavus - optic atrophy - sensorineural hearing loss (CAPOS syndrome) is a rare autosomal dominant neurological disorder characterized by early onset cerebellar ataxia, associated with areflexia, progressive optic atrophy, sensorineural deafness, a pes cavus deformity, and abnormal eye movements.

CEREBELLAR ATAXIA-AREFLEXIA-PES CAVUS-OPTIC ATROPHY-SENSORINEURAL HEARING LOSS SYNDROME Is also known as capos syndrome

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Hearing impairment
  • Ataxia
  • Nystagmus


SOURCES: OMIM ORPHANET MENDELIAN

More info about CEREBELLAR ATAXIA-AREFLEXIA-PES CAVUS-OPTIC ATROPHY-SENSORINEURAL HEARING LOSS SYNDROME

Low match HEREDITARY MOTOR AND SENSORY NEUROPATHY TYPE 6


Hereditary motor and sensory neuropathy type VI is an autosomal dominant neurologic disorder characterized by peripheral neuropathy and optic atrophy (summary by Voo et al., 2003). Genetic Heterogeneity of Hereditary Motor and Sensory Neuropathy Type VISee also HMSN6B (OMIM ), caused by mutation in the SLC25A46 gene (OMIM ) on chromosome 5q22.For a general phenotypic description and a discussion of genetic heterogeneity of CMT, see CMT1B (OMIM ).

HEREDITARY MOTOR AND SENSORY NEUROPATHY TYPE 6 Is also known as peripheral neuropathy and optic atrophy|charcot-marie-tooth disease, type 6a|cmt6|hmsn via|cmt6a|charcot-marie-tooth disease, type 6|hmsn6|neuropathy, hereditary motor and sensory, type vi|charcot-marie-tooth disease type 6

Related symptoms:

  • Hearing impairment
  • Scoliosis
  • Nystagmus
  • Sensorineural hearing impairment
  • Muscle weakness


SOURCES: ORPHANET OMIM MENDELIAN

More info about HEREDITARY MOTOR AND SENSORY NEUROPATHY TYPE 6

Low match DEVELOPMENTAL MALFORMATIONS-DEAFNESS-DYSTONIA SYNDROME


Developmental malformations-deafness-dystonia syndrome is characterised by the association of midline malformations, sensory hearing loss, and a delayed-onset generalised dystonia syndrome.

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Scoliosis


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about DEVELOPMENTAL MALFORMATIONS-DEAFNESS-DYSTONIA SYNDROME

Low match MITOCHONDRIAL DNA DEPLETION SYNDROME, ENCEPHALOMYOPATHIC FORM WITH RENAL TUBULOPATHY


Mitochondrial DNA depletion syndrome-8A is a severe autosomal recessive disorder characterized by neonatal hypotonia, lactic acidosis, and neurologic deterioration. Renal tubular involvement may also occur (Bourdon et al., 2007).Mitochondrial DNA depletion syndrome-8B is characterized by ophthalmoplegia, ptosis, gastrointestinal dysmotility, cachexia, peripheral neuropathy, and brain MRI changes, known as the MNGIE phenotype (Shaibani et al., 2009).For a discussion of genetic heterogeneity of mtDNA depletion syndromes, see MTDPS1 (OMIM ).

MITOCHONDRIAL DNA DEPLETION SYNDROME, ENCEPHALOMYOPATHIC FORM WITH RENAL TUBULOPATHY Is also known as mitochondrial dna depletion syndrome, encephalomyopathic, with renal tubulopathy, autosomal recessive|mtdna depletion syndrome, encephalomyopathic form with renal tubulopathy

Related symptoms:

  • Intellectual disability
  • Seizures
  • Generalized hypotonia
  • Hearing impairment
  • Failure to thrive


SOURCES: ORPHANET OMIM MENDELIAN

More info about MITOCHONDRIAL DNA DEPLETION SYNDROME, ENCEPHALOMYOPATHIC FORM WITH RENAL TUBULOPATHY

Low match MITOCHONDRIAL DNA-RELATED CARDIOMYOPATHY AND HEARING LOSS


Maternally inherited cardiomyopathy and hearing loss is a mitochondrial disease described in two unrelated families to date that has a heterogeneous clinical presentation characterized by the association of progressive sensorineural hearing loss with hypertrophic cardiomyopathy and, in the majority of cases, encephalomyopathy symptoms such as ataxia, slurred speech, progressive external opthalmoparesis (PEO), muscle weakness, myalgia, and exercise intolerance.

MITOCHONDRIAL DNA-RELATED CARDIOMYOPATHY AND HEARING LOSS Is also known as mtdna-related cardiomyopathy and hearing loss|trna-lys-related cardiomyopathy-hearing loss syndrome|maternally-inherited cardiomyopathy and deafness

Related symptoms:

  • Ataxia
  • Sensorineural hearing impairment
  • Muscle weakness
  • Hypertension
  • Peripheral neuropathy


SOURCES: ORPHANET MENDELIAN

More info about MITOCHONDRIAL DNA-RELATED CARDIOMYOPATHY AND HEARING LOSS

Low match MOHR-TRANEBJAERG SYNDROME


Mohr-Tranebjaerg syndrome (MTS) is an X-linked recessive neurodegenerative syndrome characterized by clinical manifestations commencing with early childhood onset hearing loss, followed by adolescent onset progressive dystonia or ataxia, visual impairment from early adulthood onwards and dementia from the 4th decade onwards.

MOHR-TRANEBJAERG SYNDROME Is also known as deafness syndrome, progressive, with blindness, dystonia, fractures, and mental deficiency|deafness-dystonia-optic atrophy syndrome|deafness-dystonia-optic neuronopathy syndrome|dystonia-deafness syndrome|ddon syndrome|opticoacoustic nerve atrophy with de

Related symptoms:

  • Intellectual disability
  • Hearing impairment
  • Sensorineural hearing impairment
  • Spasticity
  • Visual impairment


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about MOHR-TRANEBJAERG SYNDROME

Low match AUTOSOMAL DOMINANT CHARCOT-MARIE-TOOTH DISEASE TYPE 2A2


Autosomal dominant Charcot-Marie-Tooth disease type 2A2 (CMT2A2) is a subtype of Autosomal dominant Charcot-Marie-Tooth disease type 2 characterized by the childhood onset of distal weakness and areflexia (with earlier and more severe involvement of the lower extremities), reduced sensory modalities (primarily pain and temperature sensation), foot deformities, postural tremor, scoliosis and contractures. Optic atrophy, vocal cord palsy with dysphonia, sensorineural hearing loss, spinal cord abnormalities and hydrocephalus have also been reported.

AUTOSOMAL DOMINANT CHARCOT-MARIE-TOOTH DISEASE TYPE 2A2 Is also known as cmt2a2|hmsn2a2|hereditary motor and sensory neuropathy iia2|charcot-marie-tooth disease, neuronal, type 2a2|hmsn iia2|charcot-marie-tooth disease, axonal, type 2a2|charcot-marie-tooth neuropathy, type 2a2

Related symptoms:

  • Hearing impairment
  • Scoliosis
  • Nystagmus
  • Sensorineural hearing impairment
  • Muscle weakness


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about AUTOSOMAL DOMINANT CHARCOT-MARIE-TOOTH DISEASE TYPE 2A2

Top 5 symptoms//phenotypes associated to Sensorineural hearing impairment and Mental deterioration

Symptoms // Phenotype % cases
Hearing impairment Very Common - Between 80% and 100% cases
Muscle weakness Common - Between 50% and 80% cases
Peripheral neuropathy Common - Between 50% and 80% cases
Areflexia Uncommon - Between 30% and 50% cases
Ataxia Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Sensorineural hearing impairment and Mental deterioration. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Optic atrophy Dysphagia Dysarthria Hyporeflexia Dementia Ragged-red muscle fibers Intellectual disability Distal sensory impairment Nystagmus Cognitive impairment Ptosis Blindness Seizures Dystonia Encephalopathy Pes cavus Gait ataxia Progressive sensorineural hearing impairment Scoliosis Hyperreflexia Increased serum lactate Polyneuropathy

Rare Symptoms - Less than 30% cases


Limb muscle weakness Sensorimotor neuropathy Decreased number of peripheral myelinated nerve fibers Onion bulb formation Generalized hypotonia Axonal degeneration/regeneration Motor polyneuropathy Decreased motor nerve conduction velocity Steppage gait Visual impairment Mild global developmental delay Tremor Spastic gait Distal muscle weakness Vomiting Distal amyotrophy Progressive visual loss Neuronal loss in central nervous system Gait disturbance Visual loss Spasticity Abnormal autonomic nervous system physiology Reduced visual acuity Pain Proximal muscle weakness Generalized muscle weakness Sensory neuropathy Fatigue Progressive external ophthalmoplegia Ophthalmoplegia External ophthalmoplegia Babinski sign Cerebral cortical atrophy Exercise intolerance Neurodegeneration Sensory impairment Gliosis Lactic acidosis Unsteady gait Nausea Progressive neurologic deterioration Progressive muscle weakness Nausea and vomiting Neonatal hypotonia Aminoaciduria Cachexia Gastrointestinal dysmotility Proximal tubulopathy Acidosis Memory impairment Failure to thrive Weight loss Micromelia Intellectual disability, mild Kyphosis Immunodeficiency High forehead Kyphoscoliosis Cleft lip Small for gestational age Oral cleft Respiratory insufficiency Cleft upper lip Macroglossia Generalized dystonia Hypoplastic scapulae Bulbar signs Achalasia Externally rotated hips Feeding difficulties Hypertension Dyspnea Intellectual disability, severe Abnormal pyramidal sign Optic neuropathy Agammaglobulinemia Abnormal posturing Basal ganglia gliosis Postlingual sensorineural hearing impairment Flexion contracture Hypertonia Abnormality of the foot Increased susceptibility to fractures Lower limb muscle weakness Chorea Foot dorsiflexor weakness Hammertoe Difficulty climbing stairs Difficulty running Degeneration of anterior horn cells Decreased number of large peripheral myelinated nerve fibers Constriction of peripheral visual field Abnormal electroretinogram Congestive heart failure Slurred speech Abnormality of cardiovascular system morphology Cataract Myalgia Hypertrophic cardiomyopathy Dilated cardiomyopathy Chest pain Febrile seizures EMG abnormality Ophthalmoparesis Cerebral visual impairment Multiple lipomas Lower limb pain Increased serum pyruvate Increased adipose tissue Myopia Facial palsy Hyperactivity Photophobia Abnormality of the skeletal system Mild neurosensory hearing impairment Cleft palate Abnormality of the eye Hyperhidrosis Cerebral atrophy Frontal lobe dementia Pseudobulbar signs Frontotemporal dementia Bulbar palsy Abnormality of the nervous system Autistic behavior Strabismus Lethargy Abnormality of eye movement Dysmetria Postural instability Amyotrophic lateral sclerosis Bradykinesia Hemiparesis Irritability Paresthesia Truncal ataxia Axonal loss Progressive hearing impairment Apathy Personality changes Impulsivity Osteomyelitis Global brain atrophy Severe hearing impairment Neurofibrillary tangles Narcolepsy Delusions Lewy bodies Visual hallucinations Diffuse cerebral atrophy Excessive daytime somnolence Sensory ataxia Delirium Cataplexy Limb ataxia Horizontal nystagmus Hypertelorism Leber optic atrophy Abnormality of color vision Scotoma Central scotoma Abnormality of visual evoked potentials Hyperthyroidism Positive Romberg sign Dysmetric saccades Vocal cord paresis Tinnitus Goiter Slow decrease in visual acuity Distal sensory impairment of all modalities Hallucinations EMG: myopathic abnormalities Global developmental delay Short stature Cytochrome C oxidase-negative muscle fibers Anosmia Torticollis Episodic generalized hypotonia Incoordination Akinesia Drowsiness Motor deterioration Episodic ataxia Anarthria Moderate hearing impairment Abnormality of mitochondrial metabolism Multiple mitochondrial DNA deletions Skeletal muscle atrophy Parkinsonism Rigidity Peripheral axonal neuropathy Myopathy Optic disc pallor Lumbar hyperlordosis Subsarcolemmal accumulations of abnormally shaped mitochondria Peripheral axonal atrophy



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