Hyperreflexia, and Hyporeflexia

Diseases related with Hyperreflexia and Hyporeflexia

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

Top matches:

HSN2C is an autosomal recessive disorder characterized by onset in the first decade of progressive distal sensory loss leading to ulceration and amputation of the fingers and toes. Affected individuals also develop distal muscle weakness, primarily affecting the lower limbs (summary by Riviere et al., 2011).For a discussion of genetic heterogeneity of HSN, see HSAN1 (OMIM ).

Related symptoms:

  • Global developmental delay
  • Short stature
  • Muscle weakness
  • Peripheral neuropathy
  • Areflexia


SOURCES: ORPHANET OMIM MENDELIAN

More info about NEUROPATHY, HEREDITARY SENSORY, TYPE IIC; HSN2C

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 recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to RUBCN deficiency is an extremely rare, autosomal recessive, hereditary cerebellar ataxia disorder characterized by early onset of progressive, mild to moderate gait and limb ataxia, moderate to severe dysarthria, and nystagmus or saccadic pursuit, frequently associated with epilepsy, moderate intellectual disability, delayed speech acquisition, and hyporeflexia in the upper extremities. Hyperreflexia in the lower extremities may also be associated.

AUTOSOMAL RECESSIVE CEREBELLAR ATAXIA-EPILEPSY-INTELLECTUAL DISABILITY SYNDROME DUE TO RUBCN DEFICIENCY Is also known as autosomal recessive spinocerebellar ataxia type 15|scar15|salih ataxia

Related symptoms:

  • Intellectual disability
  • Seizures
  • Ataxia
  • Nystagmus
  • Delayed speech and language development


SOURCES: ORPHANET OMIM MENDELIAN

More info about AUTOSOMAL RECESSIVE CEREBELLAR ATAXIA-EPILEPSY-INTELLECTUAL DISABILITY SYNDROME DUE TO RUBCN DEFICIENCY

Other less relevant matches:

Autosomal dominant hereditary sensory neuropathy type 1D is characterized by adult onset of a distal axonal sensory neuropathy affecting all modalities, often associated with distal ulceration and amputation as well as hyporeflexia, although some patients may show features suggesting upper neuron involvement (summary by Guelly et al., 2011).For a discussion of genetic heterogeneity of HSAN, see HSAN1A (OMIM ).Spastic paraplegia-3A (SPG3A ) is an allelic disorder with a different phenotype.

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about NEUROPATHY, HEREDITARY SENSORY, TYPE ID; HSN1D

SPINOCEREBELLAR ATAXIA 19; SCA19 Is also known as sca22|spinocerebellar ataxia 22

Related symptoms:

  • Seizures
  • Ataxia
  • Nystagmus
  • Cognitive impairment
  • Hyperreflexia


SOURCES: OMIM MENDELIAN

More info about SPINOCEREBELLAR ATAXIA 19; SCA19

Spinocerebellar ataxia type 31 (SCA31) is a very rare subtype of autosomal dominant cerebellar ataxia type III (ADCA type III; see this term) characterized by the late-onset of cerebral ataxia, dysarthria and horizontal gaze nystagmus, and that is occasionally accompanied by pyramidal signs, tremor, decreased vibration sense and hearing difficulties.

SPINOCEREBELLAR ATAXIA TYPE 31 Is also known as sca31|spinocerebellar ataxia, 16q22-linked

Related symptoms:

  • Generalized hypotonia
  • Hearing impairment
  • Ataxia
  • Nystagmus
  • Sensorineural hearing impairment


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about SPINOCEREBELLAR ATAXIA TYPE 31

Spinocerebellar ataxia type 19 (SCA19) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by mild cerebellar ataxia, cognitive impairment, low scores on the Wisconsin Card Sorting Test measuring executive function, myoclonus, and postural tremor.

SPINOCEREBELLAR ATAXIA TYPE 19/22 Is also known as sca19/22

Related symptoms:

  • Ataxia
  • Nystagmus
  • Hyperreflexia
  • Dysarthria
  • Cerebellar atrophy


SOURCES: ORPHANET MENDELIAN

More info about SPINOCEREBELLAR ATAXIA TYPE 19/22

Spinocerebellar ataxia type 18 (SCA18) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by sensory neuropathy and cerebellar ataxia.

SPINOCEREBELLAR ATAXIA TYPE 18 Is also known as sca18

Related symptoms:

  • Hearing impairment
  • Nystagmus
  • Muscle weakness
  • Dysarthria
  • Skeletal muscle atrophy


SOURCES: ORPHANET MENDELIAN

More info about SPINOCEREBELLAR ATAXIA TYPE 18

Frontotemporal dementia and/or amyotrophic lateral sclerosis-4 is an autosomal dominant neurodegenerative disorder characterized by adult or late adult onset of cognitive impairment, behavioral abnormalities, and speech apraxia and/or upper and lower motor neuron signs. The phenotype is highly variable (summary by Freischmidt et al., 2015).For a discussion of genetic heterogeneity of FTDALS, see FTDALS1 (OMIM ).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 4; FTDALS4

Frontotemporal dementia and/or amyotrophic lateral sclerosis-3 is an autosomal dominant neurodegenerative disorder characterized by adult or late adult onset of cognitive impairment, behavioral abnormalities, and speech apraxia and/or upper and lower motor neuron signs. Some patients may also develop Paget disease of bone. The phenotype is highly variable, even within families (summary by Rea et al., 2014).For a discussion of genetic heterogeneity of FTDALS, see FTDALS1 (OMIM ).

Related symptoms:

  • Muscle weakness
  • Cognitive impairment
  • Hyperreflexia
  • Dysarthria
  • Skeletal muscle atrophy


SOURCES: OMIM MENDELIAN

More info about FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 3; FTDALS3

Top 5 symptoms//phenotypes associated to Hyperreflexia and Hyporeflexia

Symptoms // Phenotype % cases
Dysarthria Common - Between 50% and 80% cases
Cerebellar atrophy Uncommon - Between 30% and 50% cases
Muscle weakness Uncommon - Between 30% and 50% cases
Nystagmus Uncommon - Between 30% and 50% cases
Skeletal muscle atrophy Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Gait ataxia Limb ataxia Ataxia Peripheral neuropathy Sensory neuropathy Dysphagia Cognitive impairment Pes cavus Truncal ataxia Areflexia

Rare Symptoms - Less than 30% cases

Cerebral cortical atrophy Seizures Cogwheel rigidity Dementia Peripheral axonal neuropathy Abnormality of eye movement Postural instability Fasciculations Tremor Hearing impairment Apraxia Gaze-evoked horizontal nystagmus Mutism Frontotemporal dementia Language impairment Spasticity Disinhibition Distal sensory impairment Speech apraxia Babinski sign Abnormal lower motor neuron morphology Distal amyotrophy Distal muscle weakness Brisk reflexes Bulbar palsy Amyotrophic lateral sclerosis Apathy Personality changes Impaired vibratory sensation Ophthalmoplegia Difficulty walking Hyperactive deep tendon reflexes Intermittent microsaccadic pursuits Irritability Progressive muscle weakness Generalized hypotonia Bilateral sensorineural hearing impairment Sensorineural hearing impairment Urinary incontinence Impaired vibration sensation at ankles Broad-based gait Diplopia Slurred speech Poor coordination Impaired smooth pursuit Dysmetria Sensory impairment Behavioral abnormality Sensorimotor neuropathy Lower limb hyperreflexia Muscle fibrillation Head tremor Titubation Hyporeflexia of lower limbs Alzheimer disease Global developmental delay Sensory axonal neuropathy Urinary urgency Hand muscle weakness Intellectual disability Cold-induced hand cramps First dorsal interossei muscle atrophy First dorsal interossei muscle weakness Thenar muscle weakness Peroneal muscle weakness Thenar muscle atrophy Lower limb hypertonia Upper limb muscle weakness Motor delay Motor axonal neuropathy Limb hypertonia Hammertoe Spinal muscular atrophy Lower limb muscle weakness Limb muscle weakness Pes planus Hypertonia Paralysis Delayed speech and language development Intellectual disability, moderate Akinesia Short stature Postural tremor Horizontal nystagmus Progressive cerebellar ataxia Rigidity Myoclonus Autoamputation Distal sensory loss of all modalities Osteomyelitis Cerebral palsy Abnormality of the eye Nail dysplasia Paresthesia Paraplegia Spastic paraplegia Nail dystrophy Pain Saccadic smooth pursuit Delayed gross motor development Unsteady gait Echolalia


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