Hyperreflexia, and Progressive hearing impairment

Diseases related with Hyperreflexia and Progressive hearing impairment

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

Top matches:

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

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

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

Other less relevant matches:

Syndromic optic atrophy, also known as DOA+ syndrome, is a neurologic disorder characterized most commonly by an insidious onset of visual loss and sensorineural hearing loss in childhood with variable presentation of other clinical manifestations including progressive external ophthalmoplegia (PEO), muscle cramps, hyperreflexia, and ataxia. There appears to be a wide range of intermediate phenotypes (Yu-Wai-Man et al., 2010).

OPTIC ATROPHY WITH OR WITHOUT DEAFNESS, OPHTHALMOPLEGIA, MYOPATHY, ATAXIA, AND NEUROPATHY Is also known as dominant optic atrophy plus syndrome|doa+

Related symptoms:

  • Seizures
  • Hearing impairment
  • Ataxia
  • Strabismus
  • Sensorineural hearing impairment


SOURCES: OMIM MENDELIAN

More info about OPTIC ATROPHY WITH OR WITHOUT DEAFNESS, OPHTHALMOPLEGIA, MYOPATHY, ATAXIA, AND NEUROPATHY

Medium match NORRIE DISEASE

Norrie disease (ND) is a rare X-linked genetic vitreoretinal condition characterized by abnormal retinal development with congenital blindness. Common associated manifestations include sensorineural hearing loss and developmental delay, intellectual disability and/or behavioral disorders.

NORRIE DISEASE Is also known as episkopi blindness|norrie-warburg disease|atrophia bulborum hereditaria

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Microcephaly


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about NORRIE DISEASE

Medium match MELAS

MELAS (Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke) syndrome is a rare progressive multisystemic disorder characterized by encephalomyopathy, lactic acidosis, and stroke-like episodes. Other features include endocrinopathy, heart disease, diabetes, hearing loss, and neurological and psychiatric manifestations.

MELAS Is also known as mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes|melas syndrome|mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about MELAS

Medium match WILLIAMS SYNDROME

Williams syndrome is a rare genetic multisystemic neurodevelopmental disorder characterized by a distinct facial appearance, cardiac anomalies (most frequently supravalvular aortic stenosis), cognitive and developmental abnormalities, and connective tissue abnormalities (such as joint laxity)

WILLIAMS SYNDROME Is also known as deletion 7q11.23|williams syndrome|williams-beuren syndrome|chromosome 7q11.23 deletion syndrome, 1.5- to 1.8-mb|wms|monosomy 7q11.23|ws

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about WILLIAMS SYNDROME

Usher syndrome type III is characterized by postlingual, progressive hearing loss, variable vestibular dysfunction, and onset of retinitis pigmentosa symptoms, including nyctalopia, constriction of the visual fields, and loss of central visual acuity, usually by the second decade of life (Karjalainen et al., 1985; Pakarinen et al., 1995).For a discussion of phenotypic heterogeneity of Usher syndrome, see USH1 (OMIM ). Genetic Heterogeneity of Usher syndrome Type IIIUsher syndrome type IIIB (OMIM ) is caused by mutation in the HARS gene (OMIM ) on chromosome 5q31.3.

USHER SYNDROME TYPE 3 Is also known as ush3|usher syndrome, type iii

Related symptoms:

  • Hearing impairment
  • Ataxia
  • Neoplasm
  • Sensorineural hearing impairment
  • Cataract


SOURCES: ORPHANET OMIM MENDELIAN

More info about USHER SYNDROME TYPE 3

Related symptoms:

  • Intellectual disability
  • Short stature
  • Hearing impairment
  • Ataxia
  • Growth delay


SOURCES: ORPHANET OMIM MENDELIAN

More info about POLYENDOCRINE-POLYNEUROPATHY 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

Top 5 symptoms//phenotypes associated to Hyperreflexia and Progressive hearing impairment

Symptoms // Phenotype % cases
Hearing impairment Very Common - Between 80% and 100% cases
Sensorineural hearing impairment Common - Between 50% and 80% cases
Ataxia Common - Between 50% and 80% cases
Peripheral neuropathy Common - Between 50% and 80% cases
Spasticity Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Hyperreflexia and Progressive hearing impairment. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Seizures Visual loss Intellectual disability Dysarthria Gait disturbance Progressive sensorineural hearing impairment Muscle weakness Visual impairment Optic atrophy Dystonia Mental deterioration Dementia Cerebral cortical atrophy Cataract Hallucinations Diabetes mellitus Ptosis Growth delay Dysphagia Anxiety Attention deficit hyperactivity disorder Hypertonia Myopathy Failure to thrive Hyporeflexia Depressivity Microcephaly Progressive external ophthalmoplegia Pain Global developmental delay Tremor Short stature Cognitive impairment Blindness Autism Abnormal cochlea morphology Developmental regression Irritability Reduced visual acuity Abnormal electroretinogram Protruding ear Encephalopathy Hypogonadism Hypertrophic cardiomyopathy Ragged-red muscle fibers Cerebellar hypoplasia Hypothyroidism Nystagmus Cerebellar atrophy Gait ataxia Dysmetria Migraine Neuronal loss in central nervous system Congestive heart failure Schizophrenia Muscular hypotonia Hypertension

Rare Symptoms - Less than 30% cases

Kyphosis Abnormality of the eye Psychosis Elevated serum creatine phosphokinase Hypotelorism Sleep disturbance Sensory impairment Confusion Delayed puberty Corneal opacity Tubulointerstitial nephritis Memory impairment Glucose intolerance Osteoporosis Visual hallucinations Sudden cardiac death Involuntary movements Type II diabetes mellitus Macrotia Hemiparesis Glaucoma Rod-cone dystrophy Myoclonus Cerebral ischemia Abnormality of the cardiovascular system Delayed skeletal maturation Malar flattening Ventricular hypertrophy Behavioral abnormality Constipation Delusions Postural instability Renal insufficiency Carious teeth Abnormality of the dentition Hypercalciuria Respiratory distress Gastroesophageal reflux Proteinuria Personality changes Motor delay Feeding difficulties Feeding difficulties in infancy Cerebral atrophy Nyctalopia Stroke Neurological speech impairment Ischemic stroke Nausea and vomiting Clonus Malabsorption Paresthesia Type I diabetes mellitus Hypogonadotrophic hypogonadism High hypermetropia Abnormality of the diencephalon Vestibular dysfunction Visual field defect Gingival overgrowth Abdominal pain Abnormality of the vasculature Abnormality of immune system physiology Aplasia/Hypoplasia of the cerebellum Cachexia Polyneuropathy EEG abnormality Cryptorchidism Tubulointerstitial abnormality Anemia Strabismus Truncal ataxia Incoordination Intellectual disability, moderate Ophthalmoparesis Cerebral visual impairment Gliosis Photophobia Fatigue Pes cavus Intellectual disability, severe Dyspnea Myalgia Dilated cardiomyopathy Myopia Chest pain Neoplasm Increased serum lactate EMG abnormality Exercise intolerance Areflexia Multiple lipomas Progressive visual loss Abnormality of eye movement Muscle cramps Neurodegeneration External ophthalmoplegia Skeletal muscle atrophy Ophthalmoplegia Hemianopia Vertigo Gait imbalance Autistic behavior Scoliosis Clinodactyly of the 5th finger Epicanthus Cutis laxa Depressed nasal bridge Inguinal hernia Spina bifida occulta Redundant skin Recurrent respiratory infections Radioulnar synostosis Abnormal dermatoglyphics Precocious puberty Flexion contracture Abnormality of the fingernails Micropenis Abnormality of dental enamel Portal hypertension High forehead Delayed speech and language development Patent ductus arteriosus Abnormal heart morphology Long philtrum Intrauterine growth retardation Hypercalcemia Macrocephaly Cholelithiasis Dysphonia Polycystic ovaries Ventricular septal defect Failure to thrive in infancy Atrial septal defect Abnormality of pelvic girdle bone morphology Intellectual disability, mild Adducted thumb Widely spaced teeth Reduced bone mineral density Arnold-Chiari malformation Midface retrusion Infantile muscular hypotonia Absent speech Hernia Obesity Sacral dimple Pectus excavatum Bicuspid aortic valve Wide nasal bridge Short nose Coarse facial features Nephrocalcinosis Everted lower lip vermilion Joint laxity Otitis media Esotropia Cleft lip Dental malocclusion Vesicoureteral reflux Full cheeks Macroglossia Low-set, posteriorly rotated ears Broad nasal tip Hypodontia Abnormality of the kidney Hyperlordosis Thick vermilion border Microdontia Oral cleft Smooth philtrum Paralysis Joint stiffness Wide mouth Joint hyperflexibility Craniosynostosis Genu valgum Blepharophimosis Scarring Abnormal cardiac septum morphology Broad forehead Small for gestational age Pulmonic stenosis Renal agenesis Dehydration Hemivertebrae Umbilical hernia Pointed chin Increased body weight Increased bone mineral density Kyphoscoliosis Narrow face Osteopenia Arthralgia Hoarse voice Aortic valve stenosis Amblyopia Nephrolithiasis Recurrent urinary tract infections Abnormal form of the vertebral bodies Mitral regurgitation Tetralogy of Fallot Open mouth Recurrent otitis media Myocardial infarction Thick lower lip vermilion Small nail Pes planus Renal hypoplasia Hypsarrhythmia Cardiomegaly Coarctation of aorta Abnormality of extrapyramidal motor function Hypoplasia of penis Mitral valve prolapse Narrow forehead Abnormality of the voice Villous atrophy Nephritis Supravalvular aortic stenosis Early onset of sexual maturation Overfriendliness Nystagmus-induced head nodding Thyroid hemiagenesis Bilateral vocal cord paralysis Elfin facies Medial flaring of the eyebrow Abnormal carotid artery morphology Paroxysmal bursts of laughter Myxomatous mitral valve degeneration Unilateral renal hypoplasia Calcification of the aorta Impaired visuospatial constructive cognition Flat cornea Stellate iris Abnormal social behavior Renovascular hypertension Abnormality of the gastric mucosa Infantile hypercalcemia Food intolerance Pelvic kidney Hyperacusis Retinal arteriolar tortuosity Coronary artery stenosis Renal artery stenosis Abnormality of the bladder Synostosis of joints Nocturia Obsessive-compulsive trait Dyssynergia Functional abnormality of male internal genitalia Overriding aorta Apathy Cataplexy Delirium Sensory ataxia Excessive daytime somnolence Diffuse cerebral atrophy Lewy bodies Onion bulb formation Neurofibrillary tangles Axonal loss Decreased number of peripheral myelinated nerve fibers Severe hearing impairment Global brain atrophy Osteomyelitis Impulsivity Abnormal autonomic nervous system physiology Descending aorta hypoplasia Sensory neuropathy Distal sensory impairment Hyperhidrosis Central hypothyroidism Abnormal pyramidal sign Postnatal growth retardation Hypoglycemia Vestibular hypofunction Iris hypopigmentation Peripheral visual field loss Scotoma Astigmatism Atrophy/Degeneration involving the corticospinal tracts Vocal cord dysfunction Aortic arch aneurysm Abnormality of the ankles Chronic otitis media Insomnia Hypoplasia of the zygomatic bone Blue irides Vocal cord paralysis Down-sloping shoulders Multiple renal cysts Patellar dislocation Pulmonary artery stenosis Poor coordination Soft skin Nevus flammeus Arnold-Chiari type I malformation Posterior embryotoxon Abnormality of lipid metabolism Megalocornea Restlessness Right ventricular hypertrophy Facial cleft Prematurely aged appearance Celiac disease Vertebral segmentation defect Premature graying of hair Hallux valgus Open bite Loss of consciousness Polyuria Tracheoesophageal fistula Hypoplastic toenails Abnormality of dental morphology Unilateral renal agenesis Obsessive-compulsive behavior Chronic constipation Large earlobe Vascular tortuosity Rectal prolapse Colonic diverticula Renal duplication Aplasia/Hypoplasia of the iris Abnormal endocardium morphology Thyroid hypoplasia Retinal vascular tortuosity Increased nuchal translucency Abnormal glucose tolerance Urethral stenosis Parathyroid hyperplasia Phonophobia Abnormality of nervous system morphology Dysgraphia Arterial stenosis Periorbital edema Abnormality of the neck Peptic ulcer Cystic renal dysplasia Bladder diverticulum Lacrimation abnormality Abnormal renal morphology Subvalvular aortic stenosis Peripheral pulmonary artery stenosis Decreased plasma carnitine Periorbital fullness Abnormality of refraction Dyslexia Abnormal facial shape Enuresis Abnormality of the cerebral vasculature Cleft palate Vertebral fusion Micrognathia Remnants of the hyaloid vascular system Uterine rupture Aplasia/Hypoplasia of the lens Retinopathy of prematurity Corneal degeneration Abnormal vitreous humor morphology Posterior synechiae of the anterior chamber Phthisis bulbi Erectile abnormalities Leukocoria Abnormal chorioretinal morphology Shallow anterior chamber Exudative vitreoretinopathy Retinal fold Anterior chamber synechiae Retinoblastoma Venous insufficiency Anterior synechiae of the anterior chamber Abnormal pupil morphology Abnormality of the retinal vasculature Abnormality of the helix Retinal dysplasia Vitreoretinopathy Sclerocornea Hypoplasia of the iris Severe vision loss Narrow nasal bridge Abnormal retinal morphology Neoplasm of the eye Vascular neoplasm Ectopia lentis Abnormality of the pinna Polymicrogyria Nausea Lactic acidosis Peripheral axonal neuropathy Ichthyosis Anal atresia Congenital cataract Arthrogryposis multiplex congenita Lethargy Generalized tonic-clonic seizures Pruritus Abnormality of the liver Erythema Apnea Hypertelorism Jaundice Acidosis Weight loss Arrhythmia Headache Diarrhea Vomiting Cardiomyopathy Short neck Respiratory insufficiency Ventriculomegaly Fever Hepatomegaly Self-injurious behavior Intellectual disability, progressive Nephropathy Impaired smooth pursuit Lower limb pain Mild global developmental delay Slurred speech Febrile seizures Abnormality of cardiovascular system morphology Limb myoclonus Loss of Purkinje cells in the cerebellar vermis Tongue atrophy Olivopontocerebellar atrophy Tongue fasciculations Head tremor Slow saccadic eye movements Hand tremor Increased adipose tissue Cerebellar vermis atrophy Bowel incontinence Blurred vision Amyotrophic lateral sclerosis Dysdiadochokinesis Fasciculations Diplopia Limb ataxia Lower limb spasticity Intention tremor Parkinsonism Difficulty walking Babinski sign Increased serum pyruvate Hyperactivity Opacification of the corneal stroma Red-green dyschromatopsia Stereotypy Intellectual disability, profound Retinal detachment Thin vermilion border Retinal degeneration Retinopathy Aggressive behavior Abnormality of the nervous system Deeply set eye Microphthalmia Abnormal amplitude of pattern reversal visual evoked potentials Centrocecal scotoma Tritanomaly Abnormal auditory evoked potentials Increased susceptibility to fractures Episodic ataxia Central scotoma Macrocytic anemia Increased variability in muscle fiber diameter Horizontal nystagmus Paraplegia Spastic paraplegia Postlingual sensorineural hearing impairment Basal ganglia gliosis Abnormal posturing Agammaglobulinemia Optic neuropathy Constriction of peripheral visual field Hirsutism Coma Generalized hypotonia Anterior hypopituitarism Dysesthesia Motor polyneuropathy Episodic vomiting Abnormality of the renal tubule Ileus Proximal tubulopathy Abnormality of peripheral nerve conduction Retinal pigment epithelial atrophy Speech apraxia Left ventricular failure Seborrheic dermatitis Stroke-like episode Reduced consciousness/confusion Muscle fiber atrophy Wolff-Parkinson-White syndrome Increased CSF lactate Renal tubular dysfunction Aortic dissection Facial diplegia Cardiorespiratory arrest Transient ischemic attack Posterior subcapsular cataract Mitochondrial myopathy Hypoparathyroidism Heart block Xerostomia Vitiligo Psychomotor deterioration Writer's cramp Abnormality of visual evoked potentials Abnormal mitochondrial morphology Prominent ear helix Morphological abnormality of the inner ear Morphological abnormality of the vestibule of the inner ear Bilateral intracranial calcifications Episodic quadriplegia Abnormality of acid-base homeostasis Homonymous hemianopia Paralytic ileus Abnormal mitochondrial shape Cochlear degeneration Progressive night blindness Cochlear malformation Edema of the dorsum of hands Paronychia Persistence of primary teeth Spotty hypopigmentation Abnormal macular morphology Hemeralopia Crohn's disease Abnormality of the cerebellar vermis Psychotic episodes Renal Fanconi syndrome Abnormal nerve conduction velocity Auditory hallucinations Amaurosis fugax Gastroparesis Spontaneous hematomas Leber optic atrophy Neonatal hypoglycemia Hashimoto thyroiditis Abnormal cerebellum morphology Left ventricular hypertrophy Hyperkinesis Goiter Mutism Hypopigmented skin patches Reduced tendon reflexes Pancreatitis Macular degeneration Purpura Generalized hirsutism Cardiac arrest Abnormality of retinal pigmentation Anorexia Decreased body weight Growth abnormality Hypertrichosis Atrial fibrillation Status epilepticus Pulmonary arterial hypertension Nephrotic syndrome Bilateral sensorineural hearing impairment Generalized-onset seizure Pigmentary retinopathy Cerebral calcification Amenorrhea Specific learning disability Hip dysplasia Generalized myoclonic seizures Easy fatigability Chronic kidney disease Atopic dermatitis Bundle branch block Drowsiness Distal arthrogryposis Pulmonary embolism Primary adrenal insufficiency Thyroiditis Rhabdomyolysis Hyperthyroidism Basal ganglia calcification Glomerulopathy Prolonged QT interval Hyperkalemia Dysphasia Aphasia Adrenal insufficiency Atrioventricular block Overlapping toe Abnormality of neuronal migration Focal segmental glomerulosclerosis Hemiplegia/hemiparesis Mask-like facies Bifid scrotum Intestinal obstruction Hyponatremia Abnormality of mitochondrial metabolism Aortic aneurysm Hemiplegia Bilateral ptosis Decreased nerve conduction velocity Narcolepsy


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