Ataxia, and Bilateral sensorineural hearing impairment

Medium match SPINOCEREBELLAR ATAXIA TYPE 31

Spinocerebellar ataxia type 31 (SCA31) is a very rare subtype of autosomal dominant cerebellar ataxia type III (ADCA type III; see this term) characterized by the late-onset of cerebral ataxia, dysarthria and horizontal gaze nystagmus, and that is occasionally accompanied by pyramidal signs, tremor, decreased vibration sense and hearing difficulties.

SPINOCEREBELLAR ATAXIA TYPE 31 Is also known as sca31|spinocerebellar ataxia, 16q22-linked

• Generalized hypotonia
• Hearing impairment
• Ataxia
• Nystagmus
• Sensorineural hearing impairment

SOURCES: MESH OMIM ORPHANET MENDELIAN

Medium match JUVENILE-ONSET DIABETES MELLITUS-CENTRAL AND PERIPHERAL NEURODEGENERATION SYNDROME

JUVENILE-ONSET DIABETES MELLITUS-CENTRAL AND PERIPHERAL NEURODEGENERATION SYNDROME Is also known as combined cerebellar and peripheral ataxia-hearing loss-diabetes mellitus syndrome

• Short stature
• Hearing impairment
• Ataxia
• Sensorineural hearing impairment
• Cognitive impairment

SOURCES: OMIM ORPHANET MENDELIAN

Medium match PENDRED SYNDROME

Pendred syndrome (PDS) is a clinically variable genetic disorder characterized by bilateral sensorineural hearing loss and euthyroid goiter.

PENDRED SYNDROME Is also known as thyroid hormonogenesis, genetic defect in, 2b|goiter-deafness syndrome|deafness with goiter|tdh2b|hypothyroidism, congenital, due to dyshormonogenesis, 2b|thyroid dyshormonogenesis 2b

• Intellectual disability
• Hearing impairment
• Ataxia
• Sensorineural hearing impairment
• Respiratory insufficiency

SOURCES: ORPHANET MESH OMIM MENDELIAN

Medium match AUTOSOMAL RECESSIVE SPASTIC ATAXIA WITH LEUKOENCEPHALOPATHY

AUTOSOMAL RECESSIVE SPASTIC ATAXIA WITH LEUKOENCEPHALOPATHY Is also known as autosomal recessive spastic ataxia with leukoencephalopathy|spax3|autosomal recessive spastic ataxia type 3|arsal

• Hearing impairment
• Scoliosis
• Ataxia
• Nystagmus
• Spasticity

SOURCES: ORPHANET OMIM MESH MENDELIAN

Medium match FRONTOTEMPORAL DEMENTIA WITH MOTOR NEURON DISEASE

Frontotemporal dementia with motor neuron disease (FTD-MND) is a type of frontotemporal lobar degeneration characterized by the insidious onset (between the ages of 38-78 years) of dementia-associated psychiatric symptoms (e.g. personality changes, uninhibited behavior, irritability, aggressiveness), memory difficulties, global intellectual impairment, emotional disorders and transcortical motor aphasia that eventually leads to mutism, in addition to the manifestations of motor neuron disease such as neurogenic muscular wasting (similar to what is seen in amyotrophic lateral sclerosis; see this term). The disease is progressive, with death occurring 2-5 years after onset.

FRONTOTEMPORAL DEMENTIA WITH MOTOR NEURON DISEASE Is also known as frontotemporal dementia and/or amyotrophic lateral sclerosis|frontotemporal dementia with amyotrophic lateral sclerosis|ftd-mnd|ftdmnd|ftd-als|amyotrophic lateral sclerosis and/or frontotemporal dementia|alsftd|frontotemporal dementia and/or motor neuron

• Ataxia
• Muscle weakness
• Ptosis
• Cognitive impairment
• Dysarthria

SOURCES: OMIM ORPHANET MENDELIAN

Medium match SENSORY ATAXIC NEUROPATHY-DYSARTHRIA-OPHTHALMOPARESIS SYNDROME

Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome is characterised by adult-onset severe sensory ataxic neuropathy, dysarthria and chronic progressive external ophthalmoplegia.

SENSORY ATAXIC NEUROPATHY-DYSARTHRIA-OPHTHALMOPARESIS SYNDROME Is also known as sando

SOURCES: ORPHANET MENDELIAN

Medium match X-LINKED CHARCOT-MARIE-TOOTH DISEASE TYPE 5

X-linked Charcot-Marie-Tooth disease type 5 is a rare, genetic, peripheral sensorimotor neuropathy characterized by an X-linked recessive inheritance pattern and the infancy- to childhood-onset of: 1) progressive distal muscle weakness and atrophy (first appearing and more prominent in the lower extremities than the upper) which usually manifests with foot drop and gait disturbance, 2) bilateral, profound, prelingual sensorineural hearing loss and 3) progressive optic neuropathy. Females are asymptomatic and do not display the phenotype.

X-LINKED CHARCOT-MARIE-TOOTH DISEASE TYPE 5 Is also known as cmt5x|cmtx5|optic atrophy, polyneuropathy, and deafness|rosenberg-chutorian syndrome|charcot-marie-tooth neuropathy, x-linked recessive, 5

• Global developmental delay
• Generalized hypotonia
• Hearing impairment
• Scoliosis
• Ataxia

SOURCES: OMIM ORPHANET MENDELIAN

Medium match WOLFRAM-LIKE SYNDROME

Wolfram-like syndrome is a rare endocrine disease characterized by the triad of adult-onset diabetes mellitus, progressive hearing loss (usually presenting in the first decade of life and principally of low to moderate frequencies), and/or juvenile-onset optic atrophy. Psychiatric (i.e. anxiety, depression, hallucinations) and sleep disorders, the only neurologic abnormalities observed in this disease, have been reported in rare cases. Unlike Wolfram syndrome, patients with Wolfram-like syndrome do not report endocrine or cardiac findings.

WOLFRAM-LIKE SYNDROME Is also known as hearing loss, progressive, with optic atrophy and/or impaired glucose regulation

• Hearing impairment
• Ataxia
• Sensorineural hearing impairment
• Visual impairment
• Peripheral neuropathy

SOURCES: MESH OMIM ORPHANET MENDELIAN

Medium match BEHR SYNDROME; BEHRS

'Behr syndrome' is a clinical term that refers to the constellation of early-onset optic atrophy accompanied by neurologic features, including ataxia, pyramidal signs, spasticity, and mental retardation (Behr, 1909; Thomas et al., 1984).Patients with mutations in genes other than OPA1 can present with clinical features reminiscent of Behr syndrome. Mutations in one of these genes, OPA3 (OMIM ), result in type III 3-methylglutaconic aciduria (MGCA3 ). Lerman-Sagie (1995) noted that the abnormal urinary pattern in MGCA3 may not be picked up by routine organic acid analysis, suggesting that early reports of Behr syndrome with normal metabolic features may actually have been 3-methylglutaconic aciduria type III.

BEHR SYNDROME; BEHRS Is also known as optic atrophy, infantile hereditary, with neurologic abnormalities

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

SOURCES: ORPHANET OMIM MESH MENDELIAN

Medium match METACHROMATIC LEUKODYSTROPHY, JUVENILE FORM

METACHROMATIC LEUKODYSTROPHY, JUVENILE FORM Is also known as arylsulfatase a deficiency, juvenile form|mld, juvenile form

• Seizures
• Generalized hypotonia
• Muscle weakness
• Spasticity
• Dysarthria

SOURCES: ORPHANET MENDELIAN