Hearing impairment, and Abnormality of extrapyramidal motor function

Diseases related with Hearing impairment and Abnormality of extrapyramidal motor function

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

Top matches:

Essential tremor may be the most common human movement disorder. The main feature of essential tremor is postural tremor of the arms, but the head, legs, trunk, voice, jaw, and facial muscles also may be involved. Aggravated by emotions, hunger, fatigue, and temperature extremes, the condition may cause a functional disability or even incapacitation. Autosomal dominant inheritance can be demonstrated in most families (summary by Higgins et al., 1997).Deng et al. (2007) provided a detailed review of the genetics of essential tremor. Genetic Heterogeneity of Essential TremorOther forms of hereditary essential tremor include ETM2 (OMIM ), mapped to chromosome 2p25-p22; ETM3 (OMIM ), mapped to chromosome 6p23; ETM4 (OMIM ), caused by mutation in the FUS gene (OMIM ) on chromosome 16p11; and ETM5 (OMIM ), caused by mutation in the TENM4 gene (OMIM ) on chromosome 11q14.

TREMOR, HEREDITARY ESSENTIAL, 1; ETM1 Is also known as fet1|tremor, familial essential, 1

Related symptoms:

  • Hearing impairment
  • Ataxia
  • Cognitive impairment
  • Dysarthria
  • Fever


SOURCES: OMIM MENDELIAN

More info about TREMOR, HEREDITARY ESSENTIAL, 1; ETM1

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

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about SPINOCEREBELLAR ATAXIA 13; SCA13

Other less relevant matches:

X-linked dystonia-parkinsonism (XDP) is a neurodegenerative movement disorder characterized by adult-onset parkinsonism that is frequently accompanied by focal dystonia, which becomes generalized over time, and that has a highly variable clinical course.

X-LINKED DYSTONIA-PARKINSONISM Is also known as lubag|lubag syndrome|torsion dystonia-parkinsonism, filipino type|xdp|dyt3|dystonia-parkinsonism, x-linked

Related symptoms:

  • Hearing impairment
  • Tremor
  • Dystonia
  • Myoclonus
  • Difficulty walking


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about X-LINKED DYSTONIA-PARKINSONISM

Neuronal ceroid lipofuscinosis-4B is an autosomal dominant neurodegenerative disorder characterized by onset of symptoms in adulthood. It belongs to a group of progressive neurodegenerative diseases characterized by accumulation of intracellular autofluorescent lipopigment storage material in the brain and other tissues. Several different forms have been described according to age of onset (see, e.g., CLN3, {204200}). Individuals with the adult form, sometimes referred to as Kufs disease, develop psychiatric manifestations, seizures, cerebellar ataxia, and cognitive decline. Retinal degeneration is usually not present (summary by Benitez et al., 2011 and Velinov et al., 2012).For a general phenotypic description and a discussion of genetic heterogeneity of CLN, see CLN1 (OMIM ).

CEROID LIPOFUSCINOSIS, NEURONAL, 4B, AUTOSOMAL DOMINANT; CLN4B Is also known as ceroid lipofuscinosis, neuronal, parry type|kufs disease, autosomal dominant

Related symptoms:

  • Seizures
  • Hearing impairment
  • Ataxia
  • Dysarthria
  • Tremor


SOURCES: OMIM MENDELIAN

More info about CEROID LIPOFUSCINOSIS, NEURONAL, 4B, AUTOSOMAL DOMINANT; CLN4B

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

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

Gordon Holmes syndrome is an autosomal recessive adult-onset neurodegenerative disorder characterized by progressive cognitive decline, dementia, and variable movement disorders, such as ataxia and chorea. The neurologic phenotype is associated with hypogonadotropic hypogonadism (summary by Santens et al., 2015).

GORDON HOLMES SYNDROME; GDHS Is also known as cahh|cerebellar ataxia and hypogonadotropic hypogonadism|luteinizing hormone-releasing hormone, deficiency of, with ataxia|lhrh deficiency and ataxia

Related symptoms:

  • Hearing impairment
  • Ataxia
  • Dysarthria
  • Abnormality of the skeletal system
  • Cerebellar atrophy


SOURCES: OMIM MENDELIAN

More info about GORDON HOLMES SYNDROME; GDHS

Proximal myopathy with extrapyramidal signs is a rare, hereditary non-dystrophic myopathy characterized by proximal muscle weakness, delayed motor development, learning difficulties, and progressive extrapyramidal motor signs including chorea, dystonia and tremor. Variable additional features have been reported - ataxia, microcephaly, ophthalmoplegia, ptosis, and optic atrophy.

Related symptoms:

  • Global developmental delay
  • Hearing impairment
  • Microcephaly
  • Ataxia
  • Muscle weakness


SOURCES: ORPHANET OMIM MENDELIAN

More info about PROXIMAL MYOPATHY WITH EXTRAPYRAMIDAL SIGNS

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

Top 5 symptoms//phenotypes associated to Hearing impairment and Abnormality of extrapyramidal motor function

Symptoms // Phenotype % cases
Ataxia Very Common - Between 80% and 100% cases
Dysarthria Common - Between 50% and 80% cases
Parkinsonism Common - Between 50% and 80% cases
Dysmetria Uncommon - Between 30% and 50% cases
Tremor Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Hearing impairment and Abnormality of extrapyramidal motor function. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Dystonia Gait ataxia Nystagmus Cerebellar atrophy Mental deterioration Dementia Rigidity Limb ataxia Hand tremor Cerebral cortical atrophy Dysdiadochokinesis Hyperreflexia Chorea Difficulty walking Seizures Abnormal cerebellum morphology Resting tremor Optic atrophy Ptosis Peripheral neuropathy Dysphagia Myoclonus Memory impairment Muscle weakness

Rare Symptoms - Less than 30% cases

Truncal ataxia Progressive cerebellar ataxia Incoordination Involuntary movements Amyotrophic lateral sclerosis Bradykinesia Aspiration pneumonia Proximal muscle weakness Progressive extrapyramidal muscular rigidity Sensorineural hearing impairment Dyskinesia Areflexia Neuronal loss in central nervous system Myopathy Babinski sign Postural instability Motor delay Neurodegeneration Cognitive impairment Gait disturbance Fatigue Cerebral atrophy Depressivity Abnormality of movement Migraine Personality changes Head tremor Abnormal pyramidal sign Unsteady gait Abnormality of eye movement Global developmental delay Generalized hypotonia Progressive hearing impairment Aspiration Hypertonia Tongue fasciculations Attention deficit hyperactivity disorder Vertigo Olivopontocerebellar atrophy Tongue atrophy Infertility Intention tremor Fasciculations Aggressive behavior Hypogonadism Pneumonia Abnormality of metabolism/homeostasis Hypogonadotrophic hypogonadism Abnormality of the skeletal system Episodic generalized hypotonia Moderate hearing impairment Anarthria Episodic ataxia Lower limb spasticity Motor deterioration Drowsiness Progressive sensorineural hearing impairment Loss of Purkinje cells in the cerebellar vermis Torticollis Horizontal nystagmus Skeletal muscle atrophy Impulsivity Hemiparesis Specific learning disability Blurred vision Bowel incontinence Abnormal basal ganglia MRI signal intensity Abnormal posturing Orofacial dyskinesia Cerebellar vermis atrophy Insulin-resistant diabetes mellitus Difficulty running Centrally nucleated skeletal muscle fibers Mildly elevated creatine phosphokinase Increased variability in muscle fiber diameter Stereotypy Impaired smooth pursuit Peripheral axonal neuropathy Brisk reflexes Progressive extrapyramidal movement disorder Ophthalmoplegia Elevated serum creatine phosphokinase Cardiomyopathy Microcephaly Central core regions in muscle fibers Spasticity Diplopia Chorioretinal dystrophy Inappropriate behavior Oligomenorrhea Loss of speech Atrophy/Degeneration affecting the brainstem Slow saccadic eye movements Rectilinear intracellular accumulation of autofluorescent lipopigment storage material Progressive visual loss Clumsiness Torsion dystonia Focal dystonia Shuffling gait Blepharospasm Protruding tongue Limb dystonia Frequent falls Jerky ocular pursuit movements Limb dysmetria Titubation Morphological abnormality of the pyramidal tract Impaired vibratory sensation Cerebral palsy Optic disc pallor Laryngeal stridor Intellectual disability, moderate Muscular hypotonia Intellectual disability Vertical supranuclear gaze palsy Athetosis Oculomotor apraxia Apraxia Urinary incontinence Kinetic tremor Postural tremor Anxiety Hypoglycemia Fever Parkinsonism with favorable response to dopaminergic medication Impaired oropharyngeal swallow response Lethargy Abnormality of mitochondrial metabolism Autistic behavior Abnormality of the eye Abnormality of the nervous system Pes cavus Encephalopathy Blindness Visual impairment Strabismus Frontal lobe dementia Pseudobulbar signs Frontotemporal dementia Bulbar palsy Akinesia Ragged-red muscle fibers Behavioral abnormality Hyporeflexia Granular osmiophilic deposits (GROD) in cells Fingerprint intracellular accumulation of autofluorescent lipopigment storage material Curvilinear intracellular accumulation of autofluorescent lipopigment storage material Stooped posture Increased neuronal autofluorescent lipopigment Auditory hallucinations Astrocytoma Tics Visual hallucinations Retinal degeneration Poor speech Generalized tonic-clonic seizures Irritability Limb myoclonus


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