Spasticity, and Gait ataxia

Diseases related with Spasticity and Gait ataxia

In the following list you will find some of the most common rare diseases related to Spasticity and Gait ataxia that can help you solving undiagnosed cases.


Top matches:

Medium match BENIGN FAMILIAL NEONATAL EPILEPSY


Benign familial neonatal epilepsy (BFNE) is a rare genetic epilepsy syndrome characterized by the occurrence of afebrile seizures in otherwise healthy newborns with onset in the first few days of life.

BENIGN FAMILIAL NEONATAL EPILEPSY Is also known as bfns|benign familial neonatal convulsions|benign familial neonatal seizures

Related symptoms:

  • Seizures
  • Cognitive impairment
  • Hypertonia


SOURCES: ORPHANET MENDELIAN

More info about BENIGN FAMILIAL NEONATAL EPILEPSY

Medium match SPINOCEREBELLAR ATAXIA TYPE 40


Spinocerebellar ataxia type 40 (SCA40) is a very rare subtype of autosomal dominant cerebellar ataxia type 1, characterized by the adult-onset of unsteady gait and dysarthria, followed by wide-based gait, gait ataxia, ocular dysmetria, intention tremor, scanning speech, hyperreflexia and dysdiadochokinesis.

SPINOCEREBELLAR ATAXIA TYPE 40 Is also known as sca40

Related symptoms:

  • Ataxia
  • Hyperreflexia
  • Dysarthria
  • Tremor
  • Gait ataxia


SOURCES: ORPHANET OMIM MENDELIAN

More info about SPINOCEREBELLAR ATAXIA TYPE 40

Medium match MENTAL RETARDATION, AUTOSOMAL DOMINANT 46; MRD46


Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Spasticity


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL DOMINANT 46; MRD46

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Other less relevant matches:

Medium match SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 24; SCAR24


Related symptoms:

  • Ataxia
  • Growth delay
  • Nystagmus
  • Cataract
  • Delayed speech and language development


SOURCES: OMIM MENDELIAN

More info about SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 24; SCAR24

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 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

Related symptoms:

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


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about SPINOCEREBELLAR ATAXIA TYPE 31

Medium match SPECTRIN-ASSOCIATED AUTOSOMAL RECESSIVE CEREBELLAR ATAXIA


Spectrin-associated autosomal recessive cerebellar ataxia is a rare, genetic neurological disease, due to SPTBN2 mutations, characterized by global development delay in infancy, followed by childhood-onset gait ataxia with limb dysmetria and dysdiadochokinesia, mild to severe intellectual disability, development of cerebellar atrophy, and abnormal eye movements (including a convergent squint, hypometric saccades, jerky pursuit movements and incomplete range of movement).

SPECTRIN-ASSOCIATED AUTOSOMAL RECESSIVE CEREBELLAR ATAXIA Is also known as infantile-onset spinocerebellar ataxia-psychomotor delay syndrome|cerebellar ataxia, autosomal recessive, spectrin-associated, 1|ataxie spinocÉrÉbelleuse À dÉbut infantile avec retard psychomoteur|spectrin-associated autosomal recessive cerebellar ataxia

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Ataxia
  • Nystagmus
  • Strabismus


SOURCES: ORPHANET OMIM MENDELIAN

More info about SPECTRIN-ASSOCIATED AUTOSOMAL RECESSIVE CEREBELLAR ATAXIA

Medium match SPINOCEREBELLAR ATAXIA TYPE 28


Spinocerebellar ataxia type 28 (SCA28) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by juvenile onset, slowly progressive cerebellar ataxia due to Purkinje cell degeneration.

SPINOCEREBELLAR ATAXIA TYPE 28 Is also known as sca28

Related symptoms:

  • Ataxia
  • Nystagmus
  • Spasticity
  • Ptosis
  • Cognitive impairment


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about SPINOCEREBELLAR ATAXIA TYPE 28

Medium match SPINOCEREBELLAR ATAXIA 44; SCA44


Related symptoms:

  • Hearing impairment
  • Ataxia
  • Spasticity
  • Delayed speech and language development
  • Motor delay


SOURCES: OMIM MENDELIAN

More info about SPINOCEREBELLAR ATAXIA 44; SCA44

Medium match AUTOSOMAL RECESSIVE SPASTIC ATAXIA-OPTIC ATROPHY-DYSARTHRIA SYNDROME


AUTOSOMAL RECESSIVE SPASTIC ATAXIA-OPTIC ATROPHY-DYSARTHRIA SYNDROME Is also known as spax4|autosomal recessive spastic ataxia type 4

Related symptoms:

  • Ataxia
  • Nystagmus
  • Delayed speech and language development
  • Motor delay
  • Hyperreflexia


SOURCES: OMIM ORPHANET MENDELIAN

More info about AUTOSOMAL RECESSIVE SPASTIC ATAXIA-OPTIC ATROPHY-DYSARTHRIA SYNDROME

Top 5 symptoms//phenotypes associated to Spasticity and Gait ataxia

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

Patients with Spasticity and Gait ataxia. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Delayed speech and language development Limb ataxia Babinski sign Cognitive impairment Motor delay Dysdiadochokinesis Dysmetria Tremor Unsteady gait

Rare Symptoms - Less than 30% cases


Progressive gait ataxia Frequent falls Spastic gait Peripheral neuropathy Gait disturbance Falls Hearing impairment Sensory impairment Truncal ataxia Dysphagia Abnormality of eye movement Progressive cerebellar ataxia Dysmetric saccades Seizures Hyporeflexia Paraparesis Hypertonia Intellectual disability Spastic paraparesis Broad-based gait Intention tremor Global developmental delay Generalized hypotonia Ophthalmoparesis Memory impairment Parkinsonism Abnormality of movement Ophthalmoplegia Depressivity Rigidity Dystonia Behavioral abnormality Ptosis Jerky ocular pursuit movements Hypometric saccades Lower limb hyperreflexia Growth delay Slurred speech Mental deterioration Movement abnormality of the tongue Lower limb hypertonia Spastic ataxia Delayed ability to walk Emotional lability Neurodegeneration Myoclonus Limb dystonia Optic atrophy Hypermetric saccades Neurological speech impairment Difficulty walking Kinetic tremor Head tremor Slow saccadic eye movements Gaze-evoked nystagmus Abnormality of extrapyramidal motor function Horizontal nystagmus Cerebral atrophy Progressive spastic paraplegia Lower limb spasticity Distal amyotrophy Paraplegia Spastic paraplegia Abnormality of the skeletal system Skeletal muscle atrophy Distal lower limb muscle weakness Absent speech Encephalopathy Muscular hypotonia of the trunk Epileptic encephalopathy Hypsarrhythmia Cataract Motor axonal neuropathy Atrophy of the spinal cord Diplopia Strabismus Absence seizures Scanning speech Vertical supranuclear gaze palsy Abnormality of the eye Intellectual disability, mild Pontocerebellar atrophy Gaze-evoked horizontal nystagmus Generalized limb muscle atrophy Hyperactive deep tendon reflexes Brisk reflexes Impaired vibratory sensation Functional motor deficit Bilateral sensorineural hearing impairment Sensory neuropathy Sensorineural hearing impairment Upper limb hypertonia



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