Hyperreflexia, and Spastic tetraplegia

Diseases related with Hyperreflexia and Spastic tetraplegia

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

Top matches:

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

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

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

Other less relevant matches:

Spastic tetraplegia, thin corpus callosum, and progressive microcephaly is an autosomal recessive neurodevelopmental disorder characterized by onset of those features and severely impaired global development in early infancy. Most patients are unable to achieve independent walking or speech; some patients have seizures (summary by Srour et al., 2015 and Heimer et al., 2015).

SPASTIC TETRAPLEGIA-THIN CORPUS CALLOSUM-PROGRESSIVE POSTNATAL MICROCEPHALY SYNDROME Is also known as spastic quadriplegia-thin corpus callosum-progressive postnatal microcephaly syndrome|asct1 deficiency

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about SPASTIC TETRAPLEGIA-THIN CORPUS CALLOSUM-PROGRESSIVE POSTNATAL MICROCEPHALY SYNDROME

Related symptoms:

  • Intellectual disability
  • Seizures
  • Generalized hypotonia
  • Microcephaly
  • Low-set ears


SOURCES: OMIM MENDELIAN

More info about EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 5; EIEE5

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

MISSBC is an autosomal recessive neurodevelopmental disorder characterized by progressive microcephaly, early-onset seizures, and severely delayed or even absent psychomotor development with profound intellectual disability and spasticity or dystonia. Brain imaging shows midbrain dysplasia and intracerebral calcifications (summary by Aran et al., 2016).

Related symptoms:

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


SOURCES: MESH OMIM MENDELIAN

More info about MICROCEPHALY, SEIZURES, SPASTICITY, AND BRAIN CALCIFICATIONS; MISSBC

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

Infantile-onset ascending hereditary spastic paralysis (IAHSP) is a very rare motor neuron disease characterized by severe spasticity of the lower limbs in early life, progression of spasticity to the upper limbs in late childhood, and dysarthria.

INFANTILE-ONSET ASCENDING HEREDITARY SPASTIC PARALYSIS Is also known as iahsp

Related symptoms:

  • Scoliosis
  • Muscle weakness
  • Spasticity
  • Motor delay
  • Hyperreflexia


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about INFANTILE-ONSET ASCENDING HEREDITARY SPASTIC PARALYSIS

NDE1-related microhydranencephaly is a rare, hereditary syndrome with a central nervous system malformation as major feature characterized by extreme microcephaly and growth restriction, severe motor delay and mental retardation, and typical radiological findings of gross dilation of the ventricles resulting from the absence (or severe delay in the development) of cerebral hemispheres, hypoplasia of the corpus callosum, cerebellum, and brainstem. Associated features are thin bones and scalp rugae.

NDE1-RELATED MICROHYDRANENCEPHALY Is also known as hydranencephaly and microcephaly|mhac

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Microcephaly
  • Spasticity


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about NDE1-RELATED MICROHYDRANENCEPHALY

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

Symptoms // Phenotype % cases
Seizures Common - Between 50% and 80% cases
Microcephaly Common - Between 50% and 80% cases
Spasticity Common - Between 50% and 80% cases
Tetraplegia Common - Between 50% and 80% cases
Hypoplasia of the corpus callosum Common - Between 50% and 80% cases

Other less frequent symptoms

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

Common Symptoms - More than 50% cases

Intellectual disability

Uncommon Symptoms - Between 30% and 50% cases

Global developmental delay Babinski sign Ataxia Generalized myoclonic seizures Generalized hypotonia Progressive microcephaly Hypsarrhythmia Flexion contracture Intellectual disability, profound Cerebellar atrophy Intellectual disability, severe Dystonia Dysarthria Cerebral atrophy Postnatal microcephaly

Rare Symptoms - Less than 30% cases

Brain atrophy Cerebral cortical atrophy Skeletal muscle atrophy Progressive spastic paraplegia Dysphagia Delayed myelination Motor delay Scoliosis Abnormal pyramidal sign Paraplegia Inability to walk Febrile seizures Spastic paraplegia Hypertonia Abnormality of the periventricular white matter Irritability Hallucinations Cerebellar hypoplasia Pachygyria Progressive cerebellar ataxia Hypoplasia of the brainstem Urinary incontinence Dementia Paralysis Multiple joint contractures Abnormality of the eye Generalized amyotrophy Self-mutilation Pes cavus Gait disturbance Profound global developmental delay Hydranencephaly Muscle weakness Abnormality of eye movement EMG: axonal abnormality Progressive extrapyramidal movement disorder Progressive pes cavus Facial myokymia Progressive spastic quadriplegia Neurogenic bladder Supranuclear gaze palsy Progressive gait ataxia Sensory axonal neuropathy Horizontal nystagmus Athetosis Drooling Paraparesis Knee flexion contracture Proptosis Agenesis of corpus callosum Prominent nasal bridge Small for gestational age Sloping forehead Hydrocephalus Ventriculomegaly Talipes equinovarus Tetraparesis Short stature Abnormality of the corticospinal tract Pseudobulbar behavioral symptoms Spastic paraparesis Motor neuron atrophy Intellectual disability, progressive Impaired mastication Poor head control Anarthria Loss of ability to walk Morphological abnormality of the pyramidal tract Achilles tendon contracture Abnormal lower motor neuron morphology Slow saccadic eye movements Bulbar palsy Macrotia Peripheral axonal neuropathy Abnormality of movement Difficulty walking Lafora bodies Abnormality of the cerebral white matter Hyperactivity Absent speech Limb joint contracture Cerebellar vermis atrophy Progressive spasticity Clonus Chorea Sleep disturbance Dyskinesia Paranoia Stereotypy Spastic ataxia Mutism Spastic tetraparesis Frequent falls Psychosis Falls Confusion Mental deterioration Myoclonus Behavioral abnormality Cortical dysplasia Hip dysplasia Decreased light- and dark-adapted electroretinogram amplitude Cognitive impairment Abnormality of brain morphology Strabismus Congenital microcephaly Severe vision loss Basal ganglia calcification Brisk reflexes Aspiration Cerebral calcification Generalized tonic-clonic seizures Severe global developmental delay Muscular hypotonia of the trunk Visual impairment Spastic diplegia Low-set ears Cerebral palsy Hip dislocation Nystagmus Small anterior fontanelle Atrophy/Degeneration affecting the brainstem Infantile spasms CNS hypomyelination Epileptic encephalopathy Coloboma Encephalopathy High palate Severe hydrocephalus


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