Ataxia, and Babinski sign

Diseases related with Ataxia and Babinski sign

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


Top matches:

Medium 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

Medium 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

Medium match SPINOCEREBELLAR ATAXIA TYPE 26


Spinocerebellar ataxia type 26 (SCA26) is a very rare subtype of autosomal dominant cerebellar ataxia type III (ADCA type III; see this term) characterized by late-onset and slowly progressive cerebellar signs (gait ataxia) and eye movement abnormalities.

SPINOCEREBELLAR ATAXIA TYPE 26 Is also known as sca26

Related symptoms:

  • Seizures
  • Ataxia
  • Nystagmus
  • Dysarthria
  • Cerebellar atrophy


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about SPINOCEREBELLAR ATAXIA TYPE 26

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Other less relevant matches:

Medium match X-LINKED NON PROGRESSIVE CEREBELLAR ATAXIA


X-linked non progressive cerebellar ataxia is a rare hereditary ataxia characterized by delayed early motor development, severe neonatal hypotonia, non-progressive ataxia and slow eye movements, presenting normal cognitive abilities and absence of pyramidal signs. Frequently patients also manifest intention tremor, mild dysphagia, and dysarthria. Brain MRI reveals global cerebellar atrophy with absence of other malformations or degenerations of the central and peripheral nervous systems.

X-LINKED NON PROGRESSIVE CEREBELLAR ATAXIA Is also known as scax5|x-linked spinocerebellar ataxia type 5

Related symptoms:

  • Intellectual disability
  • Generalized hypotonia
  • Ataxia
  • Nystagmus
  • Strabismus


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about X-LINKED NON PROGRESSIVE CEREBELLAR ATAXIA

Medium match CLN13 DISEASE


Neuronal ceroid lipofuscinosis-13 is an autosomal recessive neurodegenerative disorder characterized by adult onset of progressive cognitive decline and motor dysfunction leading to dementia and often early death. Some patients develop seizures. Neurons show abnormal accumulation of autofluorescent material (summary by Smith et al., 2013).Adult-onset neuronal ceroid lipofuscinosis is sometimes referred to as Kufs disease.For a discussion of genetic heterogeneity of neuronal ceroid lipofuscinosis (CLN), see CLN1 (OMIM ).

CLN13 DISEASE Is also known as ceroid lipofuscinosis, neuronal, 13, kufs type

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Ataxia
  • Cognitive impairment
  • Hyperreflexia


SOURCES: OMIM ORPHANET MENDELIAN

More info about CLN13 DISEASE

Medium match AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 27


Autosomal recessive spastic paraplegia type 27 is a rare, pure or complex hereditary spastic paraplegia characterized by a variable onset of slowly progressive lower limb spasticity, hyperreflexia and extensor plantar responses, that may be associated with sensorimotor polyneuropathy, decreased vibration sense, lower limb distal muscle wasting, dysarthria and mild to moderate intellectual disability.

AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 27 Is also known as spg27

Related symptoms:

  • Sensorineural hearing impairment
  • Spasticity
  • Hyperreflexia
  • Dysarthria
  • Babinski sign


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 27

Medium match PAROXYSMAL DYSTONIC CHOREATHETOSIS WITH EPISODIC ATAXIA AND SPASTICITY


Dystonia-9 is an autosomal dominant neurologic disorder characterized by childhood onset of paroxysmal choreoathetosis and progressive spastic paraplegia. Most show some degree of cognitive impairment. Other variable features may include seizures, migraine headaches, and ataxia (summary by Weber et al., 2011).

PAROXYSMAL DYSTONIC CHOREATHETOSIS WITH EPISODIC ATAXIA AND SPASTICITY Is also known as dyt9|cse choreoathetosis, paroxysmal, with episodic ataxia|episodic choreoathetosis/spasticity|choreoathetosis, kinesigenic, with episodic ataxia and spasticity|choreoathetosis/spasticity, episodic

Related symptoms:

  • Intellectual disability
  • Seizures
  • Ataxia
  • Spasticity
  • Cognitive impairment


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about PAROXYSMAL DYSTONIC CHOREATHETOSIS WITH EPISODIC ATAXIA AND SPASTICITY

Medium match AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 39


This syndrome is characterised by progressive spastic paraplegia and distal muscle wasting.

AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 39 Is also known as spastic paraplegia due to neuropathy target esterase mutation|spg39|nte-related motor neuron disorder|spastic paraplegia due to nte mutation|ntemnd

Related symptoms:

  • Ataxia
  • Spasticity
  • Cognitive impairment
  • Peripheral neuropathy
  • Hyperreflexia


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 39

Medium match ATAXIA, SENSORY, 1, AUTOSOMAL DOMINANT; SNAX1


ATAXIA, SENSORY, 1, AUTOSOMAL DOMINANT; SNAX1 Is also known as adsa

Related symptoms:

  • Ataxia
  • Dysarthria
  • Gait disturbance
  • Dysphagia
  • Congestive heart failure


SOURCES: OMIM MENDELIAN

More info about ATAXIA, SENSORY, 1, AUTOSOMAL DOMINANT; SNAX1

Medium match LOWER MOTOR NEURON SYNDROME WITH LATE-ADULT ONSET


The Jokela type of spinal muscular atrophy (SMAJ) is an autosomal dominant lower motor neuron disorder characterized by adult-onset of muscle cramps and fasciculations affecting the proximal and distal muscles of the upper and lower limbs. The disorder is slowly progressive, resulting in weakness and mild muscle atrophy later in life (summary by Jokela et al., 2011).

Related symptoms:

  • Ataxia
  • Muscle weakness
  • Skeletal muscle atrophy
  • Tremor
  • Gait disturbance


SOURCES: ORPHANET OMIM MENDELIAN

More info about LOWER MOTOR NEURON SYNDROME WITH LATE-ADULT ONSET

Top 5 symptoms//phenotypes associated to Ataxia and Babinski sign

Symptoms // Phenotype % cases
Dysarthria Common - Between 50% and 80% cases
Gait disturbance Uncommon - Between 30% and 50% cases
Seizures Uncommon - Between 30% and 50% cases
Cerebellar atrophy Uncommon - Between 30% and 50% cases
Hyperreflexia Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Ataxia and Babinski sign. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Progressive cerebellar ataxia Neuronal loss in central nervous system Distal sensory impairment Hyporeflexia Areflexia Cognitive impairment Spastic paraplegia Spasticity Paraplegia Tremor Dysmetria Peripheral neuropathy Gait ataxia Dementia

Rare Symptoms - Less than 30% cases


Sensory impairment Fasciculations Truncal ataxia Intellectual disability Skeletal muscle atrophy Generalized hypotonia Intention tremor Lower limb spasticity Progressive spastic paraplegia Spastic paraparesis Paraparesis Nystagmus Abnormal cerebellum morphology Dyskinesia Muscle weakness Myoclonus Action tremor Sensory axonal neuropathy Limb ataxia Sensory neuropathy Generalized tonic-clonic seizures Difficulty walking Motor axonal neuropathy Cerebellar hypoplasia Paroxysmal choreoathetosis Abnormality of the skeletal system Distal amyotrophy Paroxysmal dyskinesia Spastic gait Progressive spastic paraparesis Morphological abnormality of the pyramidal tract Diplopia Episodic ataxia Brisk reflexes Clonus Involuntary movements Choreoathetosis Dehydration Migraine Postural instability Paresthesia Distal lower limb muscle weakness Impaired tactile sensation Headache Elevated serum creatine phosphokinase Frontotemporal dementia Mitochondrial myopathy Amyotrophic lateral sclerosis Calf muscle hypertrophy Hammertoe Spinal muscular atrophy Ragged-red muscle fibers Progressive muscle weakness Muscle cramps Pes planus Pes cavus Myopathy Atrophy of the spinal cord Gait instability, worse in the dark Distal sensory impairment of all modalities Distal sensory loss of all modalities Positive Romberg sign Sensory ataxia Peripheral demyelination Gliosis Falls Congestive heart failure Dysphagia Generalized limb muscle atrophy Abnormal pyramidal sign Lower limb hyperreflexia Dystonia Generalized hyperreflexia Clumsiness Cerebellar vermis hypoplasia Poor speech Unsteady gait Neonatal hypotonia Motor delay Strabismus Abnormality of movement Impaired vibratory sensation Impaired horizontal smooth pursuit Spastic dysarthria Abnormality of ocular smooth pursuit Dysmetric saccades Progressive gait ataxia Incoordination Impaired smooth pursuit Motor deterioration Absent Achilles reflex Impaired proprioception Paralysis Frequent falls Saccadic smooth pursuit Abnormality of somatosensory evoked potentials Emotional lability Spastic/hyperactive bladder Impaired vibration sensation at ankles Limb dysmetria Dysdiadochokinesis Generalized myoclonic seizures Sensorineural hearing impairment Frontal release signs Primitive reflex Diffuse cerebral atrophy Postural tremor Nonprogressive cerebellar ataxia Personality changes Abnormality of extrapyramidal motor function Focal-onset seizure Atonic seizures Mental deterioration Muscular hypotonia of the trunk Rigidity Depressivity Cerebral atrophy Generalized neonatal hypotonia Bulbar signs



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