Hyperreflexia, and Kyphosis

Diseases related with Hyperreflexia and Kyphosis

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

Top matches:

Related symptoms:

  • Hyperreflexia
  • Dysarthria
  • Tremor
  • Dementia
  • Kyphoscoliosis


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about PARKINSON-DEMENTIA SYNDROME

CHARCOT-MARIE-TOOTH DISEASE TYPE 1A Is also known as cmt1a|microduplication 17p12|charcot-marie-tooth neuropathy, type 1f

Related symptoms:

  • Intellectual disability
  • Generalized hypotonia
  • Muscle weakness
  • Motor delay
  • Peripheral neuropathy


SOURCES: OMIM ORPHANET MENDELIAN

More info about CHARCOT-MARIE-TOOTH DISEASE TYPE 1A

Spastic paraplegia-optic atrophy-neuropathy (SPOAN) syndrome is a rare, complex type of hereditary spastic paraplegia characterized by early-onset progressive spastic paraplegia presenting in infancy, associated with optic atrophy, fixation nystagmus, polyneuropathy occurring in late childhood/early adolescence leading to severe motor disability and progressive joint contractures and scoliosis. SPOAN syndrome is caused by mutations in the KLC2 gene (11q13.1), encoding kinesin light chain 2.

SPASTIC PARAPLEGIA-OPTIC ATROPHY-NEUROPATHY SYNDROME Is also known as spoan|spg68|autosomal recessive spastic paraplegia type 68

Related symptoms:

  • Global developmental delay
  • Scoliosis
  • Ataxia
  • Nystagmus
  • Pain


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about SPASTIC PARAPLEGIA-OPTIC ATROPHY-NEUROPATHY SYNDROME

Other less relevant matches:

Early onset torsion dystonia (EOTD) is a rare movement disorder characterized by involuntary, repetitive, sustained muscle contractions or postures involving one or more sites of the body.

EARLY-ONSET GENERALIZED LIMB-ONSET DYSTONIA Is also known as eotd|dystonia musculorum deformans 1|early-onset primary dystonia|dyt1|dystonia musculorum deformans|idiopathic torsion dystonia|early-onset generalized torsion dystonia|idiopathic dystonia|oppenheim dystonia|early-onset torsion dystonia

Related symptoms:

  • Generalized hypotonia
  • Scoliosis
  • Muscular hypotonia
  • Flexion contracture
  • Peripheral neuropathy


SOURCES: ORPHANET OMIM MENDELIAN

More info about EARLY-ONSET GENERALIZED LIMB-ONSET DYSTONIA

Hyperekplexia-4 is an autosomal recessive severe neurologic disorder apparent at birth. Affected infants have extreme hypertonia and appear stiff and rigid. They have little if any development, poor or absent visual contact, and no spontaneous movement, consistent with an encephalopathy. Some patients have early-onset refractory seizures, and many have inguinal or umbilical hernia. Most patients die in the first months of life due to respiratory failure or other complications (summary by Piard et al., 2018).For a general description and a discussion of genetic heterogeneity of hyperekplexia, see HKPX1 (OMIM ).

Related symptoms:

  • Seizures
  • Global developmental delay
  • Flexion contracture
  • High palate
  • Hyperreflexia


SOURCES: OMIM MENDELIAN

More info about HYPEREKPLEXIA 4; HKPX4

KYPHOSCOLIOSIS-LATERAL TONGUE ATROPHY-HEREDITARY SPASTIC PARAPLEGIA SYNDROME Is also known as kyphoscoliosis-lateral tongue atrophy-hsp syndrome

Related symptoms:

  • Intellectual disability
  • Pain
  • Dysphagia
  • Talipes equinovarus
  • Cerebellar atrophy


SOURCES: ORPHANET MENDELIAN

More info about KYPHOSCOLIOSIS-LATERAL TONGUE ATROPHY-HEREDITARY SPASTIC PARAPLEGIA SYNDROME

Autosomal recessive spastic paraplegia type 53 (SPG53) is a very rare, complex type of hereditary spastic paraplegia characterized by early-onset spastic paraplegia (with spasticity in the lower extremities that progresses to the upper extremities) associated with developmental and motor delay, mild to moderate cognitive and speech delay, skeletal dysmorphism (e.g. kyphosis and pectus), hypertrichosis and mildly impaired vibration sense. SPG53 is due to mutations in the VPS37A gene (8p22) encoding vacuolar protein sorting-associated protein 37A.

AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 53 Is also known as spg53

Related symptoms:

  • Global developmental delay
  • Hearing impairment
  • Microcephaly
  • Failure to thrive
  • Spasticity


SOURCES: ORPHANET OMIM MENDELIAN

More info about AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 53

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about LOPES-MACIEL-RODAN SYNDROME; LOMARS

PEHO-like syndrome is a rare, genetic neurological disease characterized by progressive encephalopathy, early-onset seizures with a hypsarrhythmic pattern, facial and limb edema, severe hypotonia, early arrest of psychomotor development and craniofacial dysmorphism (evolving microcephaly, narrow forehead, short nose, prominent auricles, open mouth, micrognathia), in the absence of neuro-ophthalmic or neuroradiologic findings. Poor visual responsiveness, growth failure and tapering fingers are also associated.

PEHO-LIKE SYNDROME Is also known as progressive encephalopathy with edema, hypsarrhythmia, and optic atrophy-like syndrome

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Spasticity


SOURCES: OMIM ORPHANET MENDELIAN

More info about PEHO-LIKE SYNDROME

Autosomal recessive SPG9B is a neurologic disorder characterized by early-onset complex spastic paraplegia. Affected individuals had delayed psychomotor development, intellectual disability, and severe motor impairment. More variable features include dysmorphic facial features, tremor, and urinary incontinence (summary by Coutelier et al., 2015).For a discussion of genetic heterogeneity of autosomal recessive SPG, see SPG5A (OMIM ).

AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 9B Is also known as ar-spg9b

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 9B

Top 5 symptoms//phenotypes associated to Hyperreflexia and Kyphosis

Symptoms // Phenotype % cases
Global developmental delay Common - Between 50% and 80% cases
Kyphoscoliosis Common - Between 50% and 80% cases
Motor delay Uncommon - Between 30% and 50% cases
Tremor Uncommon - Between 30% and 50% cases
Cerebellar atrophy Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Generalized hypotonia Dysarthria Intellectual disability Hypertonia Gait disturbance Spasticity Dystonia Pain Scoliosis Absent speech Flexion contracture Spastic paraplegia Dysphagia Babinski sign Cerebral atrophy Microcephaly Paraplegia Seizures Skeletal muscle atrophy Rigidity Abnormal pyramidal sign Peripheral neuropathy

Rare Symptoms - Less than 30% cases

Hyperreflexia in upper limbs Central hypotonia Difficulty walking Bradykinesia Delayed gross motor development Multiple joint contractures Progressive spastic paraplegia Exaggerated startle response Absent Achilles reflex Encephalopathy Impaired vibratory sensation Myoclonus Cognitive impairment Lower limb spasticity Toe walking Lower limb hyperreflexia Unsteady gait Delayed speech and language development Ventriculomegaly Optic atrophy Hypsarrhythmia Muscle weakness Distal amyotrophy Hyporeflexia Limb muscle weakness Pes cavus Decreased number of peripheral myelinated nerve fibers Areflexia Dementia Muscular hypotonia of the trunk Developmental regression Severe global developmental delay Poor speech Short foot Small hand Chorea Focal-onset seizure High myopia Tetraparesis Spastic tetraparesis Focal impaired awareness seizure Ankle clonus Intellectual disability, severe Axonal regeneration Myopia Pectus carinatum Upper limb amyotrophy Hearing impairment Mental deterioration Failure to thrive Paresthesia Distal muscle weakness Joint hyperflexibility Feeding difficulties Hypertrichosis Clonus Cortical dysplasia Limb dystonia Impaired proprioception Abnormality of the auditory canal Bruxism Upper limb hypertonia Caudate atrophy Proximal muscle weakness in upper limbs Postural tremor Cataract Cerebral cortical atrophy Abnormality of the cerebral white matter Tetraplegia Urinary incontinence Spastic gait Foot dorsiflexor weakness Abnormality of the periventricular white matter Growth delay Loss of speech Mild microcephaly Corpus callosum atrophy Urinary retention Primitive reflex Pseudobulbar paralysis Pollakisuria Impaired vibration sensation at ankles Abnormal facial shape Short stature Epicanthus Full cheeks Hypoplasia of the corpus callosum Edema Short nose Cerebellar hypoplasia Retrognathia Neonatal hypotonia Polymicrogyria Tapered finger Brain atrophy Infantile encephalopathy Sloping forehead Narrow forehead Intellectual disability, profound Status epilepticus Open mouth Pachygyria Progressive microcephaly Severe muscular hypotonia Abnormal levels of creatine kinase in blood Tongue atrophy Difficulty standing Motor axonal neuropathy Abnormality of extrapyramidal motor function Sensorimotor neuropathy Sensory ataxia Sensory axonal neuropathy Gait imbalance Demyelinating peripheral neuropathy Impaired vibration sensation in the lower limbs Distal lower limb amyotrophy Sensory neuropathy Hyporeflexia of lower limbs Hyperactive deep tendon reflexes Hyperreflexia proximally Muscular hypotonia Parkinsonism Postural instability Depressivity Optic disc pallor Peripheral axonal neuropathy Facial palsy Nystagmus Shoulder pain Acute demyelinating polyneuropathy Spontaneous pain sensation Clusters of axonal regeneration Inappropriate behavior Morphological abnormality of the pyramidal tract Ataxia Senile plaques Progressive peripheral neuropathy Decreased sensory nerve conduction velocity Lewy bodies Segmental peripheral demyelination/remyelination Neurofibrillary tangles Alzheimer disease Hyperhidrosis Diaphragmatic weakness Ophthalmoparesis Falls Hyperlordosis Myelin outfoldings Adducted thumb Decreased motor nerve conduction velocity Respiratory failure Umbilical hernia Camptodactyly Arthrogryposis multiplex congenita Delayed myelination Infantile muscular hypotonia Brisk reflexes Calf muscle hypertrophy Distal arthrogryposis Talipes equinovarus Muscle cramps Sensory impairment Knee flexion contracture Distal sensory impairment Difficulty running Lower limb amyotrophy Inguinal hernia Hernia Abnormality of movement Action tremor Involuntary movements Torticollis Abnormality of the voice Abnormality of the musculature Bipolar affective disorder Blepharospasm Generalized dystonia Onion bulb formation Respiratory distress Focal dystonia Torsion dystonia Oromandibular dystonia Writer's cramp Abnormal posturing Craniofacial dystonia Abnormality of eye movement High palate Impaired continence


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