Ataxia, and Spastic tetraplegia

Diseases related with Ataxia and Spastic tetraplegia

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


Top matches:

Medium match CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 9; CDCBM9


Complex cortical dysplasia with other brain malformations-9 is a severe autosomal recessive disorder characterized by profoundly impaired motor and cognitive development apparent from early infancy. Affected individuals develop intractable seizures and are unable to speak or ambulate. Brain imaging shows pachygyria as well as hypogenesis of the corpus callosum and other variable brain abnormalities. The phenotype results from impaired cortical neuronal migration (summary by Schaffer et al., 2018).For a discussion of genetic heterogeneity of CDCBM, see CDCBM1 (OMIM ).

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Microcephaly
  • Ataxia
  • Hyperreflexia


SOURCES: OMIM MENDELIAN

More info about CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 9; CDCBM9

Medium match EARLY-ONSET LAFORA BODY DISEASE


Early-onset Lafora body disease is an extremely rare, inherited form of progressive myoclonic epilepsy characterized by progressive myoclonus epilepsy and Lafora bodies, with an early onset (at around 5 years) and a prolonged disease course. Other manifestations include progressive dysarthria, ataxia, cognitive decline, psychosis, dementia, spasticity, dysarthria, myoclonus, and ataxia. The disease course typically extends for several decades.

Related symptoms:

  • Seizures
  • Ataxia
  • Spasticity
  • Hyperreflexia
  • Dysarthria


SOURCES: ORPHANET OMIM MENDELIAN

More info about EARLY-ONSET LAFORA BODY DISEASE

Medium match BENIGN FAMILIAL NEONATAL-INFANTILE SEIZURES


Benign familial neonatal-infantile seizures (BFNIS) is a benign familial epilepsy syndrome with an intermediate phenotype between benign familial neonatal seizures (BFNS) and benign familial infantile seizures (BFIS; see these terms). So far, this syndrome has been described in multiple members of 10 families. Age of onset in these BFNIS families varied from 2 days to 6 months, with spontaneous resolution in most cases before the age of 12 months. Like BFNS and BFIS, seizures in BFNIS generally occur in clusters over one or a few days with posterior focal seizure onset. BFNIS is caused by mutations in the SCN2A gene (2q24.3), encoding the voltage-gated sodium channel alpha-subunit Na(V)1.2. Transmission is autosomal dominant.

BENIGN FAMILIAL NEONATAL-INFANTILE SEIZURES Is also known as bfnis|benign neonatal-infantile epilepsy

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about BENIGN FAMILIAL NEONATAL-INFANTILE SEIZURES

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Other less relevant matches:

Medium match PONTOCEREBELLAR HYPOPLASIA, TYPE 2D; PCH2D


PCH2D is an autosomal recessive disorder characterized by progressive microcephaly, postnatal onset of progressive atrophy of the cerebrum and cerebellum, profound mental retardation, spasticity, and variable seizures (summary by Ben-Zeev et al., 2003).For a general phenotypic description and a discussion of genetic heterogeneity of pontocerebellar hypoplasia type 2, see PCH2A (OMIM ).

PONTOCEREBELLAR HYPOPLASIA, TYPE 2D; PCH2D Is also known as pcca|cerebellocerebral atrophy, progressive

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Microcephaly
  • Ataxia


SOURCES: OMIM MENDELIAN

More info about PONTOCEREBELLAR HYPOPLASIA, TYPE 2D; PCH2D

Medium match INHERITED CONGENITAL SPASTIC TETRAPLEGIA


Inherited congenital spastic tetraplegia is a rare, genetic, neurological disease characterized by non-progressive, variable spastic quadriparesis in multiple members of a family, in the absence of additional factors complicating pregnancy or birth (e.g. perinatal asphyxia, congenital infection). Additional clinical features include congenital hypotonia, intellectual disability, and developmental delay. Dysphagia, dysarthria, exotropia, nystagmus, seizures and brain atrophy with ventriculomegaly may be also present.

INHERITED CONGENITAL SPASTIC TETRAPLEGIA Is also known as spastic quadriplegic cerebral palsy|inherited congenital spastic quadriplegia

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Microcephaly
  • Scoliosis


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about INHERITED CONGENITAL SPASTIC TETRAPLEGIA

Medium match LISSENCEPHALY 3; LIS3


Related symptoms:

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


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about LISSENCEPHALY 3; LIS3

Medium match MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 6; MMDS6


Multiple mitochondrial dysfunctions syndrome-6 is an autosomal recessive severe neurodegenerative disorder with onset in early childhood. Affected individuals may have initial normal development, but show neurologic regression in the first year of life. They have hypotonia, inability to walk, poor speech, intellectual disability, and motor abnormalities, such as ataxia, dystonia, and spasticity. Some patients may die in childhood. Laboratory evidence indicates that the disorder results from mitochondrial dysfunction (summary by Vogtle et al., 2018).For a general description and a discussion of genetic heterogeneity of multiple mitochondrial dysfunctions syndrome, see MMDS1 (OMIM ).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 6; MMDS6

Medium match AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 78


AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 78 Is also known as spg78

Related symptoms:

  • Strabismus
  • Cognitive impairment
  • Hyperreflexia
  • Dysarthria
  • Skeletal muscle atrophy


SOURCES: ORPHANET MENDELIAN

More info about AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 78

Medium match EARLY-ONSET PROGRESSIVE ENCEPHALOPATHY-SPASTIC ATAXIA-DISTAL SPINAL MUSCULAR ATROPHY SYNDROME


PEAMO is a severe autosomal recessive neurodegenerative disorder characterized by delayed development with hypotonia apparent in infancy and subsequent motor regression. Most affected individuals are unable to or lose the ability to sit and show distal amyotrophy and weakness of all 4 limbs. The patients are cognitively impaired and unable to speak or have severe dysarthria. Additional features include optic atrophy, thin corpus callosum, and cerebellar atrophy (summary by Sferra et al., 2016).

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about EARLY-ONSET PROGRESSIVE ENCEPHALOPATHY-SPASTIC ATAXIA-DISTAL SPINAL MUSCULAR ATROPHY SYNDROME

Medium match FAMILIAL ACUTE NECROTIZING ENCEPHALOPATHY


Familial acute necrotizing encephalopathy or ADANE is a potentially fatal neurological disease characterised by neuropathological lesions principally involving the brainstem, thalamus and putamen.

FAMILIAL ACUTE NECROTIZING ENCEPHALOPATHY Is also known as adane|recurrent acute necrotizing encephalopathy|ane|encephalopathy, acute necrotizing, susceptibility to

Related symptoms:

  • Intellectual disability
  • Seizures
  • Generalized hypotonia
  • Ataxia
  • Spasticity


SOURCES: OMIM ORPHANET MENDELIAN

More info about FAMILIAL ACUTE NECROTIZING ENCEPHALOPATHY

Top 5 symptoms//phenotypes associated to Ataxia and Spastic tetraplegia

Symptoms // Phenotype % cases
Seizures Very Common - Between 80% and 100% cases
Tetraplegia Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Generalized hypotonia Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
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Other less frequent symptoms

Patients with Ataxia and Spastic tetraplegia. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Spasticity Microcephaly Hypoplasia of the corpus callosum Encephalopathy Dystonia Cerebellar atrophy Hyperreflexia Hypertonia Intellectual disability, severe Postnatal microcephaly Cognitive impairment Spastic tetraparesis Hallucinations Dysarthria

Rare Symptoms - Less than 30% cases


Progressive cerebellar ataxia Scoliosis Abnormal pyramidal sign Flexion contracture Focal-onset seizure Intellectual disability, profound Feeding difficulties Epileptic encephalopathy Dysmetria Strabismus Muscular hypotonia of the trunk Foot dorsiflexor weakness Cerebellar hypoplasia Intellectual disability, mild Pachygyria Dementia Abnormality of the periventricular white matter Skeletal muscle atrophy Optic atrophy Babinski sign Mutism Myoclonus Spastic ataxia Peripheral axonal neuropathy Cortical dysplasia Hypoplasia of the brainstem Absent speech Developmental regression Nystagmus EMG: axonal abnormality Growth delay Peripheral neuropathy Progressive extrapyramidal movement disorder Sensory axonal neuropathy Progressive pes cavus Facial myokymia Progressive spastic quadriplegia Neurogenic bladder Supranuclear gaze palsy Progressive gait ataxia Progressive spastic paraplegia Horizontal nystagmus Difficulty walking Cerebral cortical atrophy Abnormality of mitochondrial metabolism Poor head control Leukoencephalopathy Distal amyotrophy Iron accumulation in substantia nigra Severe muscular hypotonia Pallor Necrotizing encephalopathy Abnormal muscle tone Acute encephalopathy Abducens palsy Abnormal posturing Cerebral edema Increased CSF protein Severe vision loss Encephalitis Gliosis Coma Polyneuropathy Cough Rigidity Spinal muscular atrophy Pneumonia Increased serum lactate Diarrhea Vomiting Gait disturbance Fever Visual impairment Polyneuritis EMG: chronic denervation signs Difficulty standing Anarthria Progressive spastic paraparesis Hypoparathyroidism Progressive encephalopathy Optic disc pallor Blindness Inability to walk Intellectual disability, moderate Progressive microcephaly Delayed myelination Chorea Sleep disturbance Dyskinesia Irritability Cerebral atrophy Abnormal myelination Myokymia Tetraparesis Hypsarrhythmia Abnormality of the nervous system Progressive spasticity EEG abnormality Lafora bodies Paranoia Frequent falls Psychosis Urinary incontinence Generalized myoclonic seizures Falls Confusion Mental deterioration Behavioral abnormality Clonus Cerebellar vermis atrophy Poor speech Hemiparesis Visual loss Failure to thrive Agyria Esodeviation Congenital microcephaly Hemianopia Cerebellar dysplasia Abnormality of neuronal migration Lissencephaly Cerebral visual impairment Heterotopia Cerebellar vermis hypoplasia Limb joint contracture Polymicrogyria Agenesis of corpus callosum Dilatation Ventriculomegaly Motor delay Abnormality of brain morphology Spastic diplegia Cerebral palsy Paraplegia Abnormality of movement Spastic paraplegia Hip dislocation Acute necrotizing encephalopathy



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