Sensorineural hearing impairment, and Myopathy

Diseases related with Sensorineural hearing impairment and Myopathy

In the following list you will find some of the most common rare diseases related to Sensorineural hearing impairment and Myopathy 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 CONGENITAL CATARACT-PROGRESSIVE MUSCULAR HYPOTONIA-HEARING LOSS-DEVELOPMENTAL DELAY SYNDROME


Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome is a rare, genetic, mitochondrial myopathy disorder characterized by congenital cataract, progressive muscular hypotonia that particularly affects the lower limbs, reduced deep tendon reflexes, sensorineural hearing loss, global development delay and lactic acidosis. Muscle biopsy reveals reduced complex I, II and IV respiratory chain activity.

CONGENITAL CATARACT-PROGRESSIVE MUSCULAR HYPOTONIA-HEARING LOSS-DEVELOPMENTAL DELAY SYNDROME Is also known as myopathy with cataract and combined respiratory chain deficiency|mitochondrial complex deficiency, combined|congenital cataract-progressive muscular hypotonia-deafness-developmental delay syndrome

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment
  • Nystagmus
  • Sensorineural hearing impairment


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about CONGENITAL CATARACT-PROGRESSIVE MUSCULAR HYPOTONIA-HEARING LOSS-DEVELOPMENTAL DELAY SYNDROME

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Other less relevant matches:

Low match PERIPHERAL NEUROPATHY-MYOPATHY-HOARSENESS-HEARING LOSS SYNDROME


Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome is a rare, syndromic genetic deafness characterized by a combination of muscle weakness, chronic neuropathic and myopathic features, hoarseness and sensorineural hearing loss. A wide range of disease onset and severity has been reported even within the same family.

PERIPHERAL NEUROPATHY-MYOPATHY-HOARSENESS-HEARING LOSS SYNDROME Is also known as peripheral neuropathy-myopathy-hoarseness-deafness syndrome

Related symptoms:

  • Hearing impairment
  • Sensorineural hearing impairment
  • Muscle weakness
  • Peripheral neuropathy
  • Tremor


SOURCES: OMIM ORPHANET MENDELIAN

More info about PERIPHERAL NEUROPATHY-MYOPATHY-HOARSENESS-HEARING LOSS SYNDROME

Low match OPTIC ATROPHY 1; OPA1


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

Low match MITOCHONDRIAL MYOPATHY-LACTIC ACIDOSIS-DEAFNESS SYNDROME


Mitochondrial myopathy-lactic acidosis-deafness is a type of metabolic myopathy described only in two sisters to date, presenting during childhood, and characterized clinically by growth failure, severe muscle weakness, and moderate sensorineural deafness and biochemically by metabolic acidosis, elevated serum pyruvate concentration, hyperalaninemia and hyperalaninuria. There have been no further descriptions in the literature since 1973.

MITOCHONDRIAL MYOPATHY-LACTIC ACIDOSIS-DEAFNESS SYNDROME Is also known as mitochondrial myopathy-lactic acidosis-hearing loss syndrome

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Sensorineural hearing impairment
  • Muscle weakness
  • Spasticity


SOURCES: OMIM ORPHANET MENDELIAN

More info about MITOCHONDRIAL MYOPATHY-LACTIC ACIDOSIS-DEAFNESS SYNDROME

Low match FAMILIAL ISOLATED DILATED CARDIOMYOPATHY


Familial isolated dilated cardiomyopathy is a rare, genetically heterogeneous cardiac disease characterized by dilatation leading to systolic and diastolic dysfunction of the left and/or right ventricles, causing heart failure or arrhythmia.

FAMILIAL ISOLATED DILATED CARDIOMYOPATHY Is also known as cardiomyopathy, familial dilated|cardiomyopathy, familial dilated, 1|cmpd1|familial or idiopathic dilated cardiomyopathy|fdc

Related symptoms:

  • Sensorineural hearing impairment
  • Feeding difficulties
  • Fatigue
  • Ventriculomegaly
  • Cardiomyopathy


SOURCES: OMIM ORPHANET MENDELIAN

More info about FAMILIAL ISOLATED DILATED CARDIOMYOPATHY

Low match HYPOPARATHYROIDISM, FAMILIAL ISOLATED; FIH


Garfield and Karaplis (2001) reviewed the various causes and clinical forms of hypoparathyroidism. They noted that hypoparathyroidism is a clinical disorder characterized by hypocalcemia and hyperphosphatemia. It manifests when parathyroid hormone (PTH ) secreted from the parathyroid glands is insufficient to maintain normal extracellular fluid calcium concentrations or, less commonly, when PTH is unable to function optimally in target tissues, despite adequate circulating levels.Congenital absence of the parathyroid and thymus glands (III and IV pharyngeal pouch syndrome, or DiGeorge syndrome, {188400}) is usually a sporadic condition (Taitz et al., 1966).

HYPOPARATHYROIDISM, FAMILIAL ISOLATED; FIH Is also known as hypoparathyroidism, autosomal dominant

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Hearing impairment
  • Sensorineural hearing impairment


SOURCES: ORPHANET OMIM MENDELIAN

More info about HYPOPARATHYROIDISM, FAMILIAL ISOLATED; FIH

Low match MYOPATHY AND DIABETES MELLITUS


MYOPATHY AND DIABETES MELLITUS Is also known as mitochondrial myopathy, lipid type

Related symptoms:

  • Intellectual disability
  • Generalized hypotonia
  • Ataxia
  • Muscle weakness
  • Muscular hypotonia


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about MYOPATHY AND DIABETES MELLITUS

Low match ADULT-ONSET MULTIPLE MITOCHONDRIAL DNA DELETION SYNDROME DUE TO DGUOK DEFICIENCY


Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency is an extremely rare multiple mitochondrial DNA deletion syndrome with markedly decreased deoxyguanosine kinase (DGUOK) activity in skeletal muscle characterized by a highly variable phenotype. Clinical manifestations include progressive external ophthalmoplegia, mitochondrial myopathy, recurrent rhabdomyolysis, lower motor neuron disease, mild cognitive impairment, sensory axonal neuropathy, optic atrophy, ataxia, hypogonadism and/or parkinsonism.

ADULT-ONSET MULTIPLE MITOCHONDRIAL DNA DELETION SYNDROME DUE TO DGUOK DEFICIENCY Is also known as adult-onset multiple mtdna deletion syndrome due to dguok deficiency|progressive external ophthalmoplegia, autosomal recessive 4

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about ADULT-ONSET MULTIPLE MITOCHONDRIAL DNA DELETION SYNDROME DUE TO DGUOK DEFICIENCY

Top 5 symptoms//phenotypes associated to Sensorineural hearing impairment and Myopathy

Symptoms // Phenotype % cases
Hearing impairment Common - Between 50% and 80% cases
Muscle weakness Common - Between 50% and 80% cases
Proximal muscle weakness Uncommon - Between 30% and 50% cases
Ragged-red muscle fibers Uncommon - Between 30% and 50% cases
Ptosis Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Peripheral neuropathy Hyporeflexia Fatigue Ataxia Elevated serum creatine phosphokinase Cataract Generalized hypotonia Dysphagia Dysarthria Mitochondrial myopathy Increased serum lactate Progressive external ophthalmoplegia External ophthalmoplegia Ophthalmoplegia

Rare Symptoms - Less than 30% cases


Dementia Distal muscle weakness Seizures Muscular hypotonia Skeletal muscle atrophy Intellectual disability Abnormality of mitochondrial metabolism Arrhythmia Exercise intolerance Cerebral cortical atrophy Lactic acidosis Areflexia EMG: myopathic abnormalities Facial palsy EMG abnormality Limb muscle weakness Tachypnea Palpitations Congenital sensorineural hearing impairment Ventricular arrhythmia Palmoplantar hyperkeratosis Palmoplantar keratoderma Lipoatrophy Thromboembolism Severe sensorineural hearing impairment Abnormal left ventricle morphology Abnormality of neutrophils Impaired myocardial contractility Syncope Hepatic failure Dilated cardiomyopathy Feeding difficulties Progressive proximal muscle weakness Episodic vomiting Hyperalaninemia Increased serum pyruvate Vaginal fistula Moderate sensorineural hearing impairment Ventriculomegaly Cough Cardiomyopathy Edema Congestive heart failure Dilatation Dyspnea Stroke Diffuse palmoplantar hyperkeratosis Nephropathy Short stature Type I diabetes mellitus Difficulty walking Decreased nerve conduction velocity Myalgia Sensory neuropathy Type II diabetes mellitus Progressive muscle weakness Proximal amyotrophy Motor delay Peripheral arterial stenosis Decreased activity of mitochondrial complex IV Weakness of orbicularis oculi muscle Cognitive impairment Dysphonia Fasciculations Peripheral demyelination Diabetes mellitus Decreased circulating parathyroid hormone level Abnormality of the dentition Hypocalcemia Alopecia Irritability Generalized tonic-clonic seizures Paresthesia Peripheral axonal neuropathy Delayed eruption of teeth Cerebral calcification Abnormality of dental enamel Congenital hypoparathyroidism Brittle hair Hyperparathyroidism Toe walking Hypoparathyroidism Hyperphosphatemia Tetany Abnormality of calcium-phosphate metabolism Basal ganglia calcification Centrocecal scotoma Gowers sign Decreased activity of mitochondrial respiratory chain Congenital cataract Progressive hearing impairment Reduced tendon reflexes Bilateral ptosis Progressive sensorineural hearing impairment Rotary nystagmus Infantile axial hypotonia Hypoplasia of the corpus callosum Decreased serum ferritin Abnormal muscle fiber protein expression Tremor Abnormality of the foot Distal amyotrophy Hoarse voice Mildly elevated creatine phosphokinase Muscular hypotonia of the trunk Nystagmus Vocal cord paresis Babinski sign Generalized muscle weakness Goiter Hyperthyroidism Cytochrome C oxidase-negative muscle fibers Multiple mitochondrial DNA deletions Subsarcolemmal accumulations of abnormally shaped mitochondria Rigidity Global developmental delay Parkinsonism Akinesia Amyotrophic lateral sclerosis Bulbar palsy Frontotemporal dementia Pseudobulbar signs Frontal lobe dementia Progressive peripheral neuropathy Strabismus Focal impaired awareness seizure Abnormal amplitude of pattern reversal visual evoked potentials Severe vision loss Dyschromatopsia Leber optic atrophy Red-green dyschromatopsia Tritanomaly Temporal optic disc pallor Spasticity Optic neuropathy Dystonia Acidosis Postnatal growth retardation Dysmetria Metabolic acidosis Focal-onset seizure Hemiparesis Central scotoma Scotoma Visual impairment Pallor Hyperreflexia Optic atrophy Blindness Visual loss Glaucoma Reduced visual acuity Abnormality of the eye Spastic paraplegia Visual field defect Paraplegia Neurodegeneration Muscle cramps Progressive visual loss Optic disc pallor Horizontal nystagmus Abnormality of color vision Rhabdomyolysis



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