Hyperreflexia, and Sensory neuropathy

Diseases related with Hyperreflexia and Sensory neuropathy

In the following list you will find some of the most common rare diseases related to Hyperreflexia and Sensory neuropathy 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

Autosomal recessive spastic paraplegia type 61 (SPG61) is a rare, complex form of hereditary spastic paraplegia characterized by an onset in infancy of spastic paraplegia (presenting with the inability to walk unsupported and a scissors gait) associated with a motor and sensory polyneuropathy with loss of terminal digits and acropathy. SPG61 is due to a mutation in the ARL6IP1 gene (16p12-p11.2) encoding the ADP-ribosylation factor-like protein 6-interacting protein 1.

AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 61 Is also known as spg61

Related symptoms:

  • Spasticity
  • Peripheral neuropathy
  • Difficulty walking
  • Spastic paraplegia
  • Paraplegia


SOURCES: OMIM ORPHANET MENDELIAN

More info about AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 61

Related symptoms:

  • Generalized hypotonia
  • Ataxia
  • Delayed speech and language development
  • Motor delay
  • Peripheral neuropathy


SOURCES: OMIM MENDELIAN

More info about NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 8; NBIA8

Other less relevant matches:

Dystonia-9 is an autosomal dominant neurologic disorder characterized by childhood onset of paroxysmal choreoathetosis and progressive spastic paraplegia. Most show some degree of cognitive impairment. Other variable features may include seizures, migraine headaches, and ataxia (summary by Weber et al., 2011).

PAROXYSMAL DYSTONIC CHOREATHETOSIS WITH EPISODIC ATAXIA AND SPASTICITY Is also known as dyt9|cse choreoathetosis, paroxysmal, with episodic ataxia|episodic choreoathetosis/spasticity|choreoathetosis, kinesigenic, with episodic ataxia and spasticity|choreoathetosis/spasticity, episodic

Related symptoms:

  • Intellectual disability
  • Seizures
  • Ataxia
  • Spasticity
  • Cognitive impairment


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about PAROXYSMAL DYSTONIC CHOREATHETOSIS WITH EPISODIC ATAXIA AND SPASTICITY

Juvenile amyotrophic lateral sclerosis (JALS) is a very rare severe motor neuron disease characterized by progressive upper and lower motor neuron degeneration causing facial spasticity, dysarthria, and gait disorders with onset before 25 years of age.

JUVENILE AMYOTROPHIC LATERAL SCLEROSIS Is also known as jals|juvenile lou gehrig disease|juvenile charcot disease

Related symptoms:

  • Spasticity
  • Hyperreflexia
  • Dysarthria
  • Skeletal muscle atrophy
  • Gait disturbance


SOURCES: ORPHANET MENDELIAN

More info about JUVENILE AMYOTROPHIC LATERAL SCLEROSIS

Spinocerebellar ataxia type 23 (SCA23) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by gait ataxia, dysarthria, slowed saccades, ocular dysmetria, Babinski sign and hyperreflexia.

SPINOCEREBELLAR ATAXIA TYPE 23 Is also known as sca23

Related symptoms:

  • Ataxia
  • Peripheral neuropathy
  • Hyperreflexia
  • Dysarthria
  • Tremor


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about SPINOCEREBELLAR ATAXIA TYPE 23

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

NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IC; HSAN1C Is also known as neuropathy, hereditary sensory, type ic|hsn1c|hsn ic|hsan ic

Related symptoms:

  • Seizures
  • Scoliosis
  • Muscle weakness
  • Peripheral neuropathy
  • Hyperreflexia


SOURCES: OMIM MENDELIAN

More info about NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IC; HSAN1C

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

PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE; PARK2 Is also known as pdj|parkinson disease, juvenile, autosomal recessive|parkinsonism, early-onset, with diurnal fluctuation|epdf

Related symptoms:

  • Neoplasm
  • Peripheral neuropathy
  • Hyperreflexia
  • Tremor
  • Gait disturbance


SOURCES: OMIM MENDELIAN

More info about PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE; PARK2

Top 5 symptoms//phenotypes associated to Hyperreflexia and Sensory neuropathy

Symptoms // Phenotype % cases
Peripheral neuropathy Common - Between 50% and 80% cases
Ataxia Uncommon - Between 30% and 50% cases
Babinski sign Uncommon - Between 30% and 50% cases
Gait disturbance Uncommon - Between 30% and 50% cases
Dysarthria Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Tremor Spasticity Impaired vibratory sensation Peripheral axonal neuropathy Cerebellar atrophy Abnormal pyramidal sign Paraplegia Spastic paraplegia Muscle weakness Hyporeflexia Distal sensory impairment

Rare Symptoms - Less than 30% cases

Dyskinesia Progressive cerebellar ataxia Postural instability Polyneuropathy Dystonia Sensorimotor neuropathy Sensory axonal neuropathy Skeletal muscle atrophy Seizures Brisk reflexes Osteomyelitis Distal sensory loss of all modalities Neuronal loss in central nervous system Dysmetria Distal muscle weakness Paresthesia Autoamputation Pes cavus Dementia Limb ataxia Generalized hypotonia Gait ataxia Scoliosis Abnormality of the foot Impaired distal vibration sensation Cerebral palsy Nail dysplasia Distal amyotrophy Nail dystrophy Pain Kinetic tremor CNS demyelination Impaired proprioception Head tremor Slow saccadic eye movements Skin ulcer Sensorineural hearing impairment Abnormal autonomic nervous system physiology Neoplasm Neurofibrillary tangles Alzheimer disease Bradykinesia Gliosis Parkinsonism Abnormal cerebellum morphology Abnormality of movement Rigidity Senile plaques Respiratory failure Diabetes mellitus Gaze-evoked horizontal nystagmus Anhidrosis Olivopontocerebellar atrophy Hyperactive deep tendon reflexes Cogwheel rigidity Action tremor Truncal ataxia Bilateral sensorineural hearing impairment Lewy bodies Nystagmus Hearing impairment Hand clenching Dysesthesia Global developmental delay Slurred speech Impaired vibration sensation in the lower limbs Delayed speech and language development Dehydration Migraine Generalized tonic-clonic seizures Headache Cognitive impairment Intellectual disability Loss of ability to walk Unsteady gait Motor delay Hyperactive patellar reflex Involuntary movements Abnormality of the Achilles tendon Scissor gait Motor polyneuropathy Abnormality of the knee Absent Achilles reflex Inability to walk Difficulty walking Paralysis Areflexia Choreoathetosis Diplopia Cerebellar vermis atrophy Short stature Peripheral demyelination Abnormality of eye movement Agenesis of corpus callosum Pseudobulbar behavioral symptoms Abnormality of the bladder Abnormal upper motor neuron morphology Abnormal lower motor neuron morphology Decreased muscle mass Amyotrophic lateral sclerosis Hyperkinesis Clonus EMG abnormality Spastic gait Paroxysmal choreoathetosis Paroxysmal dyskinesia Progressive spastic paraparesis Morphological abnormality of the pyramidal tract Episodic ataxia Progressive spastic paraplegia Spastic paraparesis Paraparesis Substantia nigra gliosis


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