Hearing impairment, and Neurodegeneration

Diseases related with Hearing impairment and Neurodegeneration

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

Top matches:

Childhood-onset neurodegeneration with ataxia, dystonia, and gaze palsy is an autosomal recessive progressive disorder characterized by onset of gait ataxia, cognitive decline, and gaze palsy in the first or second decades. Additional features include dysarthria, dystonia, and athetoid movements. Some patients may become wheelchair-bound as young adults (summary by Haack et al., 2016).

Related symptoms:

  • Seizures
  • Hearing impairment
  • Ataxia
  • Nystagmus
  • Hyperreflexia


SOURCES: OMIM MENDELIAN

More info about NEURODEGENERATION WITH ATAXIA, DYSTONIA, AND GAZE PALSY, CHILDHOOD-ONSET; NADGP

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

Congenital cataract-hearing loss-severe developmental delay syndrome is a rare, genetic, lethal, neurometabolic disease characterized by congenital cataracts, sensorineural hearing loss, severe psychomotor developmental delay, severe, generalized muscular hypotonia, and central nervous system abnormalities (incl. cerebellar and cerebral hypoplasia, hypomyelination, wide subarachnoid spaces), in the presence of low serum copper and ceruloplasmin. Nystagmus and seizures have also been reported.

CONGENITAL CATARACT-HEARING LOSS-SEVERE DEVELOPMENTAL DELAY SYNDROME Is also known as congenital cataract-deafness-severe developmental delay syndrome|lethal neurodegenerative disorder due to copper transport defect

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment
  • Nystagmus


SOURCES: ORPHANET OMIM MENDELIAN

More info about CONGENITAL CATARACT-HEARING LOSS-SEVERE DEVELOPMENTAL DELAY SYNDROME

Other less relevant matches:

Autosomal dominant optic atrophy is characterized by an insidious onset of visual impairment in early childhood with moderate to severe loss of visual acuity, temporal optic disc pallor, color vision deficits, and centrocecal scotoma of variable density (Votruba et al., 1998).Some patients with mutations in the OPA1 gene may also develop extraocular neurologic features, such as deafness, progressive external ophthalmoplegia, muscle cramps, hyperreflexia, and ataxia; see {125250}. There appears to be a wide range of intermediate phenotypes (Yu-Wai-Man et al., 2010).Yu-Wai-Man et al. (2009) provided a detailed review of autosomal dominant optic atrophy and Leber hereditary optic neuropathy (LHON ), with emphasis on the selective vulnerability of retinal ganglion cells to mitochondrial dysfunction in both disorders. Genetic Heterogeneity of Optic AtrophyOptic atrophy-2 (OPA2 ) maps to chromosome Xp11.4-p11.21. OPA3 (OMIM ) is caused by mutation in the OPA3 gene (OMIM ) on chromosome 19q13. OPA4 (OMIM ) maps to chromosome 18q12.2-q12.3. OPA5 (OMIM ) is caused by mutation in the DNM1L gene (OMIM ) on chromosome 12p11. OPA6 (OMIM ) maps to chromosome 8q21-q22. OPA7 (OMIM ) is caused by mutation in the TMEM126A gene (OMIM ) on chromosome 11q14. OPA8 (OMIM ) maps to chromosome 16q21-q22. OPA9 (OMIM ) is caused by mutation in the ACO2 gene (OMIM ) on chromosome 22q13; OPA10 (OMIM ) is caused by mutation in the RTN4IP1 gene (OMIM ) on chromosome 6q21; and OPA11 (OMIM ) is caused by mutation in the YME1L1 gene (OMIM ) on chromosome 10p12.

OPTIC ATROPHY 1; OPA1 Is also known as kjer-type optic atrophy|optic atrophy, kjer type|oak|optic atrophy, juvenile

Related symptoms:

  • Hearing impairment
  • Ataxia
  • Strabismus
  • Sensorineural hearing impairment
  • Visual impairment


SOURCES: ORPHANET OMIM MENDELIAN

More info about OPTIC ATROPHY 1; OPA1

Cobblestone lissencephaly without muscular or ocular involvement is a form of cobblestone lissencephaly characterized by a constellation of brain malformations which can either exist alone or in conjunction with minimal muscular and ocular abnormalities. The clinical features of the disease include severe developmental delay, increased head circumference, hydrocephalus and seizures.

COBBLESTONE LISSENCEPHALY WITHOUT MUSCULAR OR OCULAR INVOLVEMENT Is also known as lissencephaly type 2 without muscular or ocular involvement|lissencephaly type 2 without muscular or eye involvement|cobblestone lissencephaly without muscular or eye involvement

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment


SOURCES: ORPHANET OMIM MENDELIAN

More info about COBBLESTONE LISSENCEPHALY WITHOUT MUSCULAR OR OCULAR INVOLVEMENT

Stress-induced childhood-onset neurodegeneration with variable ataxia and seizures (CONDSIAS) is an autosomal recessive neurodegenerative disorder with onset in the first years of life following normal early development. Patient have cyclic episodic deterioration in response to stress, such as infection or febrile illness. The severity is highly variable: some patients develop seizures early in life that are associated with loss of developmental milestones and early sudden death in childhood, whereas others present at a later age with muscle weakness, gait ataxia, impaired speech, more subtle clinical deterioration, and cognitive decline. Neurologic involvement includes gait ataxia, cerebellar signs associated with cerebellar atrophy, generalized brain atrophy, impaired intellectual development, hearing loss, and peripheral neuropathy (summary by Ghosh et al., 2018).

Related symptoms:

  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Ataxia
  • Nystagmus


SOURCES: OMIM MENDELIAN

More info about NEURODEGENERATION, CHILDHOOD-ONSET, STRESS-INDUCED, WITH VARIABLE ATAXIA AND SEIZURES; CONDSIAS

Mitochondrial short-chain enoyl-CoA hydratase-1 deficiency is an autosomal recessive inborn error of metabolism characterized by severely delayed psychomotor development, neurodegeneration, increased lactic acid, and brain lesions in the basal ganglia (summary by Peters et al., 2014).

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment
  • Nystagmus


SOURCES: OMIM MENDELIAN

More info about MITOCHONDRIAL SHORT-CHAIN ENOYL-COA HYDRATASE 1 DEFICIENCY; ECHS1D

Spinocerebellar ataxia type 36 (SCA36) is a subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1; see this term) characterized by gait and limb ataxia, lower limb spasticity, dysarthria, muscle fasiculations, tongue atrophy and hyperreflexia.

SPINOCEREBELLAR ATAXIA TYPE 36 Is also known as sca36|asidan

Related symptoms:

  • Hearing impairment
  • Ataxia
  • Nystagmus
  • Spasticity
  • Ptosis


SOURCES: OMIM ORPHANET MENDELIAN

More info about SPINOCEREBELLAR ATAXIA TYPE 36

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

Mitochondrial complex III deficiency nuclear type 2 is an autosomal recessive severe neurodegenerative disorder that usually presents in childhood, but may show later onset, even in adulthood. Affected individuals have motor disability, with ataxia, apraxia, dystonia, and dysarthria, associated with necrotic lesions throughout the brain. Most patients also have cognitive impairment and axonal neuropathy and become severely disabled later in life (summary by Ghezzi et al., 2011). The disorder may present clinically as spinocerebellar ataxia or Leigh syndrome, or with psychiatric disturbances (Morino et al., 2014; Atwal, 2014; Nogueira et al., 2013).For a discussion of genetic heterogeneity of mitochondrial complex III deficiency, see MC3DN1 (OMIM ).

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Hearing impairment
  • Ataxia
  • Nystagmus


SOURCES: OMIM MENDELIAN

More info about MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 2; MC3DN2

Top 5 symptoms//phenotypes associated to Hearing impairment and Neurodegeneration

Symptoms // Phenotype % cases
Seizures Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Nystagmus Common - Between 50% and 80% cases
Ataxia Common - Between 50% and 80% cases
Peripheral neuropathy Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Hearing impairment and Neurodegeneration. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Cerebellar atrophy Mental deterioration Hyperreflexia Dystonia Gait ataxia Dysmetria Dysarthria Fasciculations Cerebral atrophy Intellectual disability Abnormality of eye movement Babinski sign Sensorineural hearing impairment Cataract Abnormality of the eye Generalized hypotonia Dysdiadochokinesis Tremor Dysphagia

Rare Symptoms - Less than 30% cases

Tongue fasciculations Horizontal nystagmus Severe global developmental delay Strabismus Optic atrophy Blindness Intellectual disability, mild Spastic paraplegia Ophthalmoplegia Paraplegia Abnormality of mitochondrial metabolism External ophthalmoplegia Spasticity Olivopontocerebellar atrophy Incoordination Abnormality of the cerebral white matter Abnormal cerebellum morphology Muscle weakness Truncal ataxia Diplopia Brain atrophy Skeletal muscle atrophy Mild global developmental delay Gait disturbance Global brain atrophy Abnormal pyramidal sign Apraxia Parkinsonism Progressive hearing impairment Axonal loss Hallucinations Neuronal loss in central nervous system Limb ataxia Blurred vision Bowel incontinence Difficulty walking Hand tremor Amyotrophic lateral sclerosis Cerebellar vermis atrophy Urinary incontinence Slow saccadic eye movements Lower limb spasticity Intention tremor Migraine Vertigo Attention deficit hyperactivity disorder Impaired smooth pursuit Onion bulb formation Hypertonia Ventricular septal defect Hyporeflexia Hypoventilation Pain Developmental stagnation Vertical supranuclear gaze palsy Hypometric saccades Multifocal seizures Athetosis Hypoplasia of the corpus callosum Unsteady gait Cardiomyopathy Apnea Increased serum lactate Poor suck Increased CSF lactate Vertical nystagmus Decreased activity of the pyruvate dehydrogenase complex Ptosis Oculomotor apraxia Head tremor Short stature Tongue atrophy Peripheral axonal neuropathy Cognitive impairment Behavioral abnormality Depressivity Pes cavus Cerebral cortical atrophy Anxiety Aggressive behavior Bradykinesia Achalasia Abnormality of extrapyramidal motor function Psychosis Paraparesis Spastic paraparesis Dysphonia Obsessive-compulsive behavior Axonal degeneration Externally rotated hips Bulbar signs Loss of Purkinje cells in the cerebellar vermis Immunodeficiency Limb myoclonus Polyneuropathy Scoliosis Hypertelorism Cleft palate Abnormality of the skeletal system Kyphosis High forehead Hypoplastic scapulae Kyphoscoliosis Cleft lip Small for gestational age Micromelia Oral cleft Cleft upper lip Macroglossia Generalized dystonia Dementia Irritability Hyperhidrosis Personality changes Osteomyelitis Impulsivity Myopathy Visual loss Glaucoma Reduced visual acuity Proximal muscle weakness Pallor Decreased serum ceruloplasmin Apathy Abnormal autonomic nervous system physiology Muscle cramps Progressive visual loss Optic disc pallor Memory impairment Abnormality of color vision Visual field defect Visual impairment Hypocupremia Optic neuropathy Narcolepsy Lewy bodies Visual hallucinations Diffuse cerebral atrophy Excessive daytime somnolence Sensory ataxia Delirium Cataplexy Neurofibrillary tangles Rotary nystagmus Decreased number of peripheral myelinated nerve fibers Absent speech Severe hearing impairment Congenital cataract Neutropenia Dandy-Walker malformation Cerebellar vermis hypoplasia CNS hypomyelination Scotoma Central scotoma Developmental regression Hypoplasia of the brainstem Progressive neurologic deterioration Encephalocele Heterotopia Absence seizures Lissencephaly Leukoencephalopathy Hemiplegia Infantile spasms Tetraplegia Occipital encephalocele Porencephalic cyst Type II lissencephaly Gray matter heterotopias Right hemiplegia Paresthesia Delusions Respiratory failure Spastic tetraplegia Distal sensory impairment Severe vision loss Abnormal amplitude of pattern reversal visual evoked potentials Progressive external ophthalmoplegia Dyschromatopsia Leber optic atrophy Red-green dyschromatopsia Tritanomaly Centrocecal scotoma Temporal optic disc pallor Sensory impairment Coma Muscular hypotonia Macrocephaly Gliosis Hydrocephalus Cerebellar hypoplasia Muscular dystrophy Sensory neuropathy Polymicrogyria Impaired social interactions


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