Abnormality of the skeletal system, and Spastic tetraplegia

Diseases related with Abnormality of the skeletal system and Spastic tetraplegia

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


Top matches:

Low match CEREBRAL PALSY, SPASTIC QUADRIPLEGIC, 2; CPSQ2


Related symptoms:

  • Intellectual disability
  • Generalized hypotonia
  • Nystagmus
  • Muscular hypotonia
  • Ventriculomegaly


SOURCES: MESH OMIM MENDELIAN

More info about CEREBRAL PALSY, SPASTIC QUADRIPLEGIC, 2; CPSQ2

Low match EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 60; EIEE60


Related symptoms:

  • Intellectual disability
  • Seizures
  • Absent speech
  • Tetraplegia
  • Brain atrophy


SOURCES: OMIM MENDELIAN

More info about EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 60; EIEE60

Low 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

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Other less relevant matches:

Low match CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 4; CDCBM4


Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 4; CDCBM4

Low match CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 3; CDCBM3


Related symptoms:

  • Seizures
  • Global developmental delay
  • Microcephaly
  • Nystagmus
  • Intrauterine growth retardation


SOURCES: OMIM MENDELIAN

More info about CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 3; CDCBM3

Low match PORENCEPHALY 2; POREN2


Porencephaly is a neurologic disorder characterized by fluid-filled cysts or cavities in the brain and is thought to result from disturbed vascular supply leading to cerebral degeneration. Affected individuals typically have hemiplegia, seizures, and intellectual disability, although the severity is variable (summary by Yoneda et al., 2012).For a discussion of genetic heterogeneity of porencephaly, see POREN1 (OMIM ).

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Strabismus
  • Spasticity


SOURCES: OMIM MENDELIAN

More info about PORENCEPHALY 2; POREN2

Low 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

Low 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

Low match EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 4; EIEE4


Related symptoms:

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


SOURCES: OMIM MESH MENDELIAN

More info about EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 4; EIEE4

Low match COASY PROTEIN-ASSOCIATED NEURODEGENERATION


COASY protein-associated neurodegeneration (CoPAN) is a very rare, slowly progressive form of neurodegeneration with brain iron accumulation (NBIA) characterized by classic NBIA features. The clinical manifestations include early-onset spastic-dystonic paraparesis, oromandibular dystonia, dysarthria, parkinsonism, axonal neuropathy, progressive cognitive impairment, complex motor tics, and obsessive-compulsive disorder.

COASY PROTEIN-ASSOCIATED NEURODEGENERATION Is also known as copan|neurodegeneration with brain iron accumulation due to coasy mutation|nbia6

Related symptoms:

  • Spasticity
  • Cognitive impairment
  • Peripheral neuropathy
  • Dysarthria
  • Skeletal muscle atrophy


SOURCES: ORPHANET OMIM MENDELIAN

More info about COASY PROTEIN-ASSOCIATED NEURODEGENERATION

Top 5 symptoms//phenotypes associated to Abnormality of the skeletal system and Spastic tetraplegia

Symptoms // Phenotype % cases
Tetraplegia Very Common - Between 80% and 100% cases
Seizures Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Global developmental delay Uncommon - Between 30% and 50% cases
Generalized hypotonia Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Abnormality of the skeletal system and Spastic tetraplegia. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Hypoplasia of the corpus callosum Cortical dysplasia Spasticity Pachygyria Ataxia Microcephaly Hypsarrhythmia Epileptic encephalopathy Nystagmus Neurodegeneration Spastic paraplegia

Rare Symptoms - Less than 30% cases


Generalized myoclonic seizures Agyria Mental deterioration Cognitive impairment Intellectual disability, severe Myoclonus Behavioral abnormality Dystonia Dysarthria Encephalopathy Tetraparesis Developmental regression Paraplegia Spastic tetraparesis Lissencephaly Hyperreflexia Cerebral atrophy Brain atrophy Absent speech Intellectual disability, profound Ventriculomegaly Heterotopia Focal-onset seizure Areflexia Depressivity Skeletal muscle atrophy Peripheral neuropathy EEG with burst suppression Impaired horizontal smooth pursuit Infantile encephalopathy Cerebral hypomyelination Pes cavus Generalized tonic seizures Epileptic spasms CNS hypomyelination Status epilepticus Dyskinesia Generalized tonic-clonic seizures Severe global developmental delay Hyporeflexia Difficulty walking Cerebral cortical atrophy Motor axonal neuropathy Eye of the tiger anomaly of globus pallidus Abnormality of thalamus morphology Abnormal corpus striatum morphology Motor tics Abnormal globus pallidus morphology Oromandibular dystonia Tics Toe walking Rigidity Obsessive-compulsive behavior Spastic paraparesis Paraparesis Bradykinesia Parkinsonism Distal amyotrophy Peripheral axonal neuropathy Muscular hypotonia Tremor Clumsiness Headache Urinary incontinence Intestinal malrotation Progressive cerebellar ataxia Falls Confusion Hypoplasia of the brainstem Dementia Frequent falls Cerebellar hypoplasia Postnatal microcephaly Cerebral degeneration Intraventricular hemorrhage Porencephalic cyst Intracranial hemorrhage Hemiplegia Psychosis Hallucinations Fever EEG abnormality Abnormal myelination Myokymia Intrauterine growth retardation Dysmetria Intellectual disability, moderate Muscular hypotonia of the trunk Abnormality of the nervous system Intellectual disability, mild Strabismus Neonatal hypotonia Cataract Cerebral palsy Lafora bodies Paranoia Spastic ataxia Mutism Abnormal caudate nucleus morphology



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