Hyperreflexia, and Pes planus

Diseases related with Hyperreflexia and Pes planus

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

Top matches:

DISTAL HEREDITARY MOTOR NEUROPATHY TYPE 5 Is also known as spinal muscular atrophy, distal, with upper limb predominance|dhmn va|hmn5|hmn va|neuropathy, distal hereditary motor, type va|distal spinal muscular atrophy type 5|spinal muscular atrophy, distal, type va|dsmav|dhmn5|distal hereditary motor neuropathy ty

Related symptoms:

  • Muscle weakness
  • Spasticity
  • Peripheral neuropathy
  • Hyperreflexia
  • Skeletal muscle atrophy


SOURCES: ORPHANET OMIM MENDELIAN

More info about DISTAL HEREDITARY MOTOR NEUROPATHY TYPE 5

AUTOSOMAL DOMINANT SPASTIC PARAPLEGIA TYPE 17 Is also known as silver spastic paraplegia syndrome|silver syndrome|spastic paraplegia-amyotrophy of hands and feet|spg17|spastic paraplegia with amyotrophy of hands and feet

Related symptoms:

  • Muscle weakness
  • Spasticity
  • Peripheral neuropathy
  • Hyperreflexia
  • Skeletal muscle atrophy


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about AUTOSOMAL DOMINANT SPASTIC PARAPLEGIA TYPE 17

Autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiency is a rare, genetic, slowly progressive neurodegenerative disease resulting from MGLUR1 deficiency characterized by global developmental delay (beginning in infancy), mild to severe intellectual deficit with poor or absent speech, moderate to severe stance and gait ataxia, pyramidal signs (e.g. hyperreflexia) and mild dysdiadochokinesia, dysmetria, tremors, and/or dysarthria. Oculomotor signs, such as nystagmus, strabismus, ptosis and hypometric saccades, may also be associated. Brain imaging reveals progressive, generalized, moderate to severe cerebellar atrophy, inferior vermian hypoplasia, and/or constitutionally small brain.

AUTOSOMAL RECESSIVE CONGENITAL CEREBELLAR ATAXIA DUE TO MGLUR1 DEFICIENCY Is also known as autosomal recessive spinocerebellar ataxia type 13|scar13|autosomal recessive congenital cerebellar ataxia due to metabotropic glutamate receptor 1 deficiency

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia


SOURCES: ORPHANET OMIM MENDELIAN

More info about AUTOSOMAL RECESSIVE CONGENITAL CEREBELLAR ATAXIA DUE TO MGLUR1 DEFICIENCY

Other less relevant matches:

Dysequilibrium syndrome (DES) is a non-progressive cerebellar disorder characterized by ataxia associated with an intellectual disability, delayed ambulation and cerebellar hypoplasia.

DYSEQUILIBRIUM SYNDROME Is also known as cerebellar ataxia-intellectual disability-dysequilibrium syndrome syndrome|cerebellar hypoplasia, vldlr-associated|non-progressive cerebellar ataxia-intellectual disability syndrome|cerebellar ataxia and mental retardation with or without quadrupedal loco

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia


SOURCES: OMIM ORPHANET MENDELIAN

More info about DYSEQUILIBRIUM SYNDROME

Early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome is a genetic neurodegenerative disease characterized by normal early development followed by childhood onset optic atrophy with progressive vision loss and eventually blindness, followed by progressive neurological decline that typically includes cerebellar ataxia, nystagmus, dorsal column dysfunction (decreased vibration and position sense), spastic paraplegia and finally tetraparesis.

EARLY-ONSET PROGRESSIVE NEURODEGENERATION-BLINDNESS-ATAXIA-SPASTICITY SYNDROME Is also known as ndgoa|neurodegeneration with optic atrophy, childhood-onset

Related symptoms:

  • Seizures
  • Ataxia
  • Nystagmus
  • Spasticity
  • Cognitive impairment


SOURCES: ORPHANET OMIM MENDELIAN

More info about EARLY-ONSET PROGRESSIVE NEURODEGENERATION-BLINDNESS-ATAXIA-SPASTICITY SYNDROME

Spastic paraplegia-47 is an autosomal recessive neurodegenerative disorder characterized by neonatal hypotonia that progresses to hypertonia and spasticity and severe mental retardation with poor or absent speech development (summary by Abou Jamra et al., 2011).

SPASTIC PARAPLEGIA 47, AUTOSOMAL RECESSIVE; SPG47 Is also known as cpsq5, formerly|cerebral palsy, spastic quadriplegic, 5, formerly

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia


SOURCES: OMIM MENDELIAN

More info about SPASTIC PARAPLEGIA 47, AUTOSOMAL RECESSIVE; SPG47

The disorders involving primarily the cerebellar parenchyma have been classified into six forms. In cerebelloparenchymal disorder III, cerebellar ataxia is congenital (non-progressive) and characterized by cerebellar symptoms such as incoordination of gait often associated with poor coordination of hands, speech and eye movements. The other features are congenital mental retardation and hypotonia, in addition to other neurological and non-neurological features. MRI or CT scan show marked atrophy of the vermis and hemispheres. A severe loss of granule cells with heterotopic Purkinje cells is observed. The mode of inheritance in the few reported families is autosomal recessive. In one family, cerebellar ataxia was associated to albinism.: In a large inbred Lebanese family the disease locus was assigned to a 12.1-cM interval on chromosome 9q34-qter between markers D9S67 and D9S312. The primary biochemical defect remains unknown. Up to now, the only treatment has consisted in early interventional therapies including intensive speech therapy and adequate stimulation and/or training.

AUTOSOMAL RECESSIVE CEREBELLOPARENCHYMAL DISORDER TYPE 3 Is also known as cpd iii|scar2|cpd3|cerebellar granular cell hypoplasia and mental retardation, congenital|autosomal recessive spinocerebellar ataxia type 2|cerebellar hypoplasia, nonprogressive norman type|cerebelloparenchymal disorder iii

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Hearing impairment


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about AUTOSOMAL RECESSIVE CEREBELLOPARENCHYMAL DISORDER TYPE 3

Giant axonal neuropathy (GAN) is a severe, slowly progressive neurodegenerative disorder characterized by progressive motor and sensory peripheral neuropathy, central nervous system involvement (including pyramidal and cerebellar signs), and characteristic kinky hair in most cases.

GIANT AXONAL NEUROPATHY Is also known as gan

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia


SOURCES: ORPHANET OMIM MENDELIAN

More info about GIANT AXONAL NEUROPATHY

Severe intellectual disability and progressive spastic paraplegia is a rare complex spastic paraplegia characterized by an early onset hypotonia that progresses to spasticity, global developmental delay, severe intellectual disability and speech impairment, microcephaly, short stature and dysmorphic features. Patients often become non-ambulatory, and some develop seizures and stereotypic laughter.

SEVERE INTELLECTUAL DISABILITY AND PROGRESSIVE SPASTIC PARAPLEGIA Is also known as ap4 deficiency syndrome|cpsq4, formerly|cerebral palsy, spastic quadriplegic, 4, formerly

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia


SOURCES: ORPHANET OMIM MENDELIAN

More info about SEVERE INTELLECTUAL DISABILITY AND PROGRESSIVE SPASTIC PARAPLEGIA

Hereditary sensory neuropathy type I (HSN I) is a slowly progressive neurological disorder characterised by prominent predominantly distal sensory loss, autonomic disturbances, autosomal dominant inheritance, and juvenile or adulthood disease onset.

HEREDITARY SENSORY AND AUTONOMIC NEUROPATHY TYPE 1 Is also known as hereditary sensory and autonomic neuropathy type i|hsan1|hsan ia|hsn ia|neuropathy, hereditary sensory, type ia|hsn1a|neuropathy, hereditary sensory radicular, autosomal dominant, type 1a

Related symptoms:

  • Intellectual disability
  • Generalized hypotonia
  • Hearing impairment
  • Microcephaly
  • Nystagmus


SOURCES: OMIM ORPHANET MENDELIAN

More info about HEREDITARY SENSORY AND AUTONOMIC NEUROPATHY TYPE 1

Top 5 symptoms//phenotypes associated to Hyperreflexia and Pes planus

Symptoms // Phenotype % cases
Babinski sign Common - Between 50% and 80% cases
Spasticity Common - Between 50% and 80% cases
Nystagmus Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Generalized hypotonia Common - Between 50% and 80% cases

Other less frequent symptoms

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

Common Symptoms - More than 50% cases

Short stature

Uncommon Symptoms - Between 30% and 50% cases

Cerebellar atrophy

Common Symptoms - More than 50% cases

Pes cavus

Uncommon Symptoms - Between 30% and 50% cases

Global developmental delay

Common Symptoms - More than 50% cases

Seizures

Uncommon Symptoms - Between 30% and 50% cases

Ataxia Paraplegia Spastic paraplegia Tremor Dysarthria Microcephaly Peripheral neuropathy Skeletal muscle atrophy Distal amyotrophy Hypertonia Dysmetria Talipes equinovarus Absent speech Distal muscle weakness Muscular hypotonia Gait disturbance Delayed speech and language development Flexion contracture Intention tremor Neonatal hypotonia Intellectual disability, severe Ventriculomegaly Motor delay Gait ataxia Polyneuropathy Dysdiadochokinesis Spastic paraparesis Muscle weakness Difficulty walking Paraparesis Hyporeflexia Areflexia Distal sensory impairment Motor axonal neuropathy Brisk reflexes

Rare Symptoms - Less than 30% cases

Cerebellar hypoplasia Hammertoe Hypoplasia of the corpus callosum Limb hypertonia Wide nasal bridge High palate Abnormal facial shape Fasciculations Spinal muscular atrophy Sensorimotor neuropathy Dystonia Nonprogressive cerebellar ataxia Gaze-evoked nystagmus Lower limb muscle weakness Poor speech Limb muscle weakness Wide mouth Coarse facial features Everted upper lip vermilion Peripheral axonal neuropathy Sensory neuropathy Abnormal cerebellum morphology Unsteady gait Sensorineural hearing impairment Scoliosis Hearing impairment Acetabular dysplasia Short philtrum Facial hypotonia Genu recurvatum Abnormality of the periventricular white matter Spastic tetraplegia Narrow forehead Waddling gait Tetraplegia Bulbous nose Cataract Cognitive impairment Strabismus Gaze-evoked horizontal nystagmus Amyotrophic lateral sclerosis Sensory impairment Abnormality of the foot First dorsal interossei muscle atrophy First dorsal interossei muscle weakness Thenar muscle weakness Abnormal pyramidal sign Thenar muscle atrophy Horizontal nystagmus Hand muscle weakness Lower limb hypertonia Shyness Facial diplegia Osteomyelitis Anhidrosis Axonal loss Chronic axonal neuropathy Morphological abnormality of the central nervous system Paronychia Bulbar signs Arthropathy Hyperhidrosis Distal sensory loss of all modalities Woolly hair Gastroesophageal reflux Anosmia Areflexia of lower limbs Civatte bodies Pathologic fracture Aseptic necrosis Mental deterioration Foot osteomyelitis Proximal muscle weakness Facial palsy Genu valgum Restless legs Joint hypermobility Falls Abnormality of the hair Curly hair CNS hypomyelination Abnormality of the hand Steppage gait Decreased number of large peripheral myelinated nerve fibers Sensory axonal neuropathy Vocal cord paralysis Decreased number of peripheral myelinated nerve fibers Dementia Paralysis Prominent antihelix Paresthesia Talipes Amblyopia Stereotypy Narrow face Pain Abnormality of the skin Decreased sensory nerve conduction velocity Downslanted palpebral fissures Drooling Decreased muscle mass Long nose Progressive spastic paraplegia Overweight Generalized joint laxity Spastic dysarthria Cerebral cortical atrophy Diffuse axonal swelling Neuropathic arthropathy Hyporeflexia of lower limbs Recurrent infections Abnormal autonomic nervous system physiology Hypohidrosis Respiratory insufficiency High forehead Morphological abnormality of the pyramidal tract Abnormal blistering of the skin Abnormality of the Achilles tendon Red hair Abnormal hand morphology Curly eyelashes Abnormality of the pituitary gland Hypotension Cough Pili canaliculi Pointed chin Upper limb spasticity Abnormality of the skeletal system Abnormality of ocular abduction Intellectual disability, profound Hypometric saccades Difficulty standing Limb dysmetria Functional motor deficit Retrocerebellar cyst Inferior vermis hypoplasia Abnormality of metabolism/homeostasis Abnormality of eye movement Intellectual disability, moderate Abnormality of the eye Abnormality of movement Arachnodactyly Progressive cerebellar ataxia Broad-based gait Pachygyria Esotropia Neurological speech impairment Cerebral palsy Foot dorsiflexor weakness Upper limb muscle weakness Peroneal muscle weakness Cold-induced hand cramps Small hand Split hand Lower limb spasticity Spastic gait Postural tremor Ptosis Impaired vibration sensation in the lower limbs Hip pain Hand muscle atrophy Knee pain Ankle weakness Abnormality of the foot musculature Abnormal motor nerve conduction velocity Truncal ataxia Abnormality of vision Macrocephaly Incoordination Protruding tongue Excessive salivation Behavioral abnormality Malabsorption Hypopigmentation of the skin Gliosis Limb ataxia Hyperactive deep tendon reflexes Febrile seizures Ocular albinism Enlarged cisterna magna Generalized hypopigmentation White hair Abnormality of the retinal vasculature Dilated fourth ventricle Saccadic smooth pursuit Open mouth Inability to walk Hypoplasia of the brainstem Neurodegeneration Toe walking Cortical gyral simplification Myopia Optic atrophy Cerebral atrophy Visual loss Pectus carinatum Progressive visual loss Head titubation Tetraparesis Clonus Myotonia Ankle clonus Myokymia Titubation Facial myokymia Autoamputation of foot


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