Ataxia, and Peripheral neuropathy

Diseases related with Ataxia and Peripheral neuropathy

In the following list you will find some of the most common rare diseases related to Ataxia and Peripheral neuropathy that can help you solving undiagnosed cases.


Top matches:

Low match AUDITORY NEUROPATHY, AUTOSOMAL DOMINANT, 1; AUNA1


Auditory neuropathy is a type of hearing loss defined by the preservation of cochlear outer hair cell function and abnormal or absent auditory brainstem responses. Auditory neuropathy may accompany peripheral neuropathy in a variety of dominant syndromes such as Charcot-Marie-Tooth disease (Satya-Murti et al., 1979) and has been observed in Friedreich ataxia (Satya-Murti et al., 1980). Auditory neuropathy unassociated with peripheral neuropathy most commonly occurs as a sporadic or recessive trait; see, for example, {601071}.

AUDITORY NEUROPATHY, AUTOSOMAL DOMINANT, 1; AUNA1 Is also known as auditory neuropathy, nonsyndromic dominant|nsdan

Related symptoms:

  • Hearing impairment
  • Ataxia
  • Sensorineural hearing impairment
  • Peripheral neuropathy
  • Poor speech


SOURCES: OMIM MESH MENDELIAN

More info about AUDITORY NEUROPATHY, AUTOSOMAL DOMINANT, 1; AUNA1

Low match NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 8; NBIA8


Related symptoms:

  • Generalized hypotonia
  • Ataxia
  • Delayed speech and language development
  • Motor delay
  • Peripheral neuropathy


SOURCES: OMIM MENDELIAN

More info about NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 8; NBIA8

Low match SPINOCEREBELLAR ATAXIA 46; SCA46


SPINOCEREBELLAR ATAXIA 46; SCA46 Is also known as spinocerebellar ataxia, 46, autosomal dominant, with sensory axonal neuropathy

Related symptoms:

  • Ataxia
  • Nystagmus
  • Peripheral neuropathy
  • Dysarthria
  • Cerebellar atrophy


SOURCES: OMIM MENDELIAN

More info about SPINOCEREBELLAR ATAXIA 46; SCA46

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Other less relevant matches:

Low match SPINOCEREBELLAR ATAXIA TYPE 30


Spinocerebellar ataxia type 30 (SCA30) is a very rare subtype of autosomal dominant cerebellar ataxia type III (ADCA type III; see this term) characterized by a slowly progressive and relatively pure ataxia.

SPINOCEREBELLAR ATAXIA TYPE 30 Is also known as sca30

Related symptoms:

  • Ataxia
  • Nystagmus
  • Peripheral neuropathy
  • Hyperreflexia
  • Dysarthria


SOURCES: OMIM ORPHANET MENDELIAN

More info about SPINOCEREBELLAR ATAXIA TYPE 30

Low match ATAXIA-OCULOMOTOR APRAXIA TYPE 4


Ataxia-oculomotor apraxia-4 is an autosomal recessive neurologic disorder characterized by onset of dystonia and ataxia in the first decade. Additional features include oculomotor apraxia and peripheral neuropathy. Some patients may show cognitive impairment. The disorder is progressive, and most patients become wheelchair-bound in the second or third decade (summary by Bras et al., 2015).For a discussion of genetic heterogeneity of ataxia-oculomotor apraxia, see AOA1 (OMIM ).

ATAXIA-OCULOMOTOR APRAXIA TYPE 4 Is also known as aoa4

Related symptoms:

  • Ataxia
  • Muscle weakness
  • Cognitive impairment
  • Peripheral neuropathy
  • Cerebellar atrophy


SOURCES: OMIM ORPHANET MENDELIAN

More info about ATAXIA-OCULOMOTOR APRAXIA TYPE 4

Low match SPINOCEREBELLAR ATAXIA TYPE 12


Spinocerebellar ataxia type 12 (SCA12) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by the presence of action tremor associated with relatively mild cerebellar ataxia. Associated pyramidal and extrapyramidal signs and dementia have been reported.

SPINOCEREBELLAR ATAXIA TYPE 12 Is also known as sca12

Related symptoms:

  • Ataxia
  • Cognitive impairment
  • Hyperreflexia
  • Gait disturbance
  • Cerebellar atrophy


SOURCES: ORPHANET MENDELIAN

More info about SPINOCEREBELLAR ATAXIA TYPE 12

Low match EPILEPSY, PROGRESSIVE MYOCLONIC, 1B; EPM1B


Related symptoms:

  • Seizures
  • Ataxia
  • Peripheral neuropathy
  • Dysarthria
  • Tremor


SOURCES: MESH OMIM MENDELIAN

More info about EPILEPSY, PROGRESSIVE MYOCLONIC, 1B; EPM1B

Low match ATAXIA-OCULOMOTOR APRAXIA 3; AOA3


AOA3 is an autosomal recessive progressive neurologic disorder with onset in the second decade of life (Al Tassan et al., 2012).For a discussion of genetic heterogeneity of ataxia-oculomotor apraxia, see AOA1 (OMIM ).

Related symptoms:

  • Ataxia
  • Nystagmus
  • Muscle weakness
  • Dysarthria
  • Cerebellar atrophy


SOURCES: OMIM MENDELIAN

More info about ATAXIA-OCULOMOTOR APRAXIA 3; AOA3

Low match DNAJB2-RELATED CHARCOT-MARIE-TOOTH DISEASE TYPE 2


Charcot-Marie-Tooth disease type 2T (CMT2T) is a slowly progressive autosomal recessive sensorimotor peripheral neuropathy with onset in middle age (Higuchi et al., 2016).For a phenotypic description and a discussion of genetic heterogeneity of axonal CMT, see CMT2A1 (OMIM ).

DNAJB2-RELATED CHARCOT-MARIE-TOOTH DISEASE TYPE 2 Is also known as charcot-marie-tooth neuropathy, type 2t|charcot-marie-tooth disease, axonal, autosomal recessive, type 2t|dnajb2-related cmt2

Related symptoms:

  • Ataxia
  • Cognitive impairment
  • Peripheral neuropathy
  • Gait disturbance
  • Cerebral atrophy


SOURCES: OMIM ORPHANET MENDELIAN

More info about DNAJB2-RELATED CHARCOT-MARIE-TOOTH DISEASE TYPE 2

Low match SPINOCEREBELLAR ATAXIA TYPE 4


Spinocerebellar ataxia type 4 (SCA4) is a very rare progressive and untreatable subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term) characterized by ataxia with sensory neuropathy.

SPINOCEREBELLAR ATAXIA TYPE 4 Is also known as spinocerebellar ataxia, autosomal dominant, with sensory axonal neuropathy|sca4

Related symptoms:

  • Ataxia
  • Muscle weakness
  • Peripheral neuropathy
  • Dysarthria
  • Gait disturbance


SOURCES: OMIM ORPHANET MENDELIAN

More info about SPINOCEREBELLAR ATAXIA TYPE 4

Top 5 symptoms//phenotypes associated to Ataxia and Peripheral neuropathy

Symptoms // Phenotype % cases
Cerebellar atrophy Common - Between 50% and 80% cases
Dysarthria Uncommon - Between 30% and 50% cases
Dysmetria Uncommon - Between 30% and 50% cases
Unsteady gait Uncommon - Between 30% and 50% cases
Distal sensory impairment Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Ataxia and Peripheral neuropathy. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Areflexia Sensory neuropathy Sensory impairment Hyporeflexia Muscle weakness Cognitive impairment Gait ataxia Nystagmus Progressive cerebellar ataxia Limb ataxia Sensory axonal neuropathy Hyperreflexia Dementia Gait disturbance

Rare Symptoms - Less than 30% cases


Babinski sign Apraxia Oculomotor apraxia Impaired vibratory sensation Cerebral atrophy Abnormal pyramidal sign Limb dysmetria Slow saccadic eye movements Sensorimotor neuropathy Action tremor Abnormal cerebellum morphology Poor speech Polyneuropathy Tremor Abnormality of movement Poor fine motor coordination Impaired proprioception Tremor by anatomical site Absent Achilles reflex Seizures Motor deterioration Motor axonal neuropathy Impaired smooth pursuit Foot dorsiflexor weakness Alzheimer disease Falls Peripheral axonal neuropathy Frequent falls Cerebellar hypoplasia Myoclonus Difficulty walking Generalized tonic-clonic seizures Generalized myoclonic seizures Atonic seizures Hearing impairment Dystonia Hypokinesia Sensory ataxia Sensorineural hearing impairment Severe hearing impairment Abnormal auditory evoked potentials Absence of acoustic reflex Abnormal speech discrimination Generalized hypotonia Delayed speech and language development Motor delay Loss of ability to walk Abnormality of eye movement Positive Romberg sign Postural tremor Sensory ataxic neuropathy Square-wave jerks Gaze-evoked nystagmus Lower limb hyperreflexia Cerebellar vermis atrophy Hypermetric saccades Tetraplegia Behavioral abnormality Parkinsonism Bradykinesia Intention tremor Impaired tactile sensation



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