Sensorineural hearing impairment, and Mental deterioration

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

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

SOURCES: OMIM MESH MENDELIAN

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

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

SOURCES: OMIM MENDELIAN

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

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

SOURCES: ORPHANET MESH OMIM MENDELIAN

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

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

SOURCES: OMIM ORPHANET MENDELIAN

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

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

SOURCES: ORPHANET OMIM MENDELIAN

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.

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

SOURCES: MESH ORPHANET OMIM MENDELIAN

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

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

SOURCES: ORPHANET OMIM MENDELIAN

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

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

SOURCES: ORPHANET MENDELIAN

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

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

SOURCES: ORPHANET OMIM MESH MENDELIAN

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

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

SOURCES: MESH OMIM ORPHANET MENDELIAN