Hyperreflexia, and Abnormality of the eye

Diseases related with Hyperreflexia and Abnormality of the eye

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

Top matches:

Autosomal recessive spastic paraplegia type 59 is a very rare, complex hereditary spastic paraplegia characterized by an early onset of progressive lower limb spasticity, tip-toe walking, scissor gait, hyperreflexia and clonus that may be associated with borderline intellectual disability. Nystagmus and pes equinovarus have also been reported.

AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 59 Is also known as spg59

Related symptoms:

  • Intellectual disability
  • Nystagmus
  • Talipes equinovarus
  • Spastic paraplegia
  • Abnormality of the cerebral white matter


SOURCES: ORPHANET MENDELIAN

More info about AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 59

Related symptoms:

  • Hyperreflexia
  • Tremor
  • Gait disturbance
  • Depressivity
  • Rigidity


SOURCES: OMIM MENDELIAN

More info about PARKINSON DISEASE 22, AUTOSOMAL DOMINANT; PARK22

Spinocerebellar ataxia type 15/16 (SCA15/16) is a rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by cerebellar ataxia, tremor and cognitive impairment.

SPINOCEREBELLAR ATAXIA TYPE 15/16 Is also known as sca15/16

Related symptoms:

  • Ataxia
  • Hyperreflexia
  • Cerebellar atrophy
  • Gait ataxia
  • Action tremor


SOURCES: ORPHANET MENDELIAN

More info about SPINOCEREBELLAR ATAXIA TYPE 15/16

Other less relevant matches:

Related symptoms:

  • Muscle weakness
  • Spasticity
  • Hyperreflexia
  • Paralysis
  • Lower limb spasticity


SOURCES: OMIM MENDELIAN

More info about AMYOTROPHIC LATERAL SCLEROSIS 16, JUVENILE; ALS16

AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 24 Is also known as spg24

Related symptoms:

  • Sensorineural hearing impairment
  • Spasticity
  • Hyperreflexia
  • Spastic paraplegia
  • Clonus


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 24

Related symptoms:

  • Ataxia
  • Nystagmus
  • Hyperreflexia
  • Dysarthria
  • Cerebellar atrophy


SOURCES: OMIM MENDELIAN

More info about SPINOCEREBELLAR ATAXIA 11; SCA11

Autosomal recessive spastic paraplegia type 14 is a rare, complex hereditary spastic paraplegia characterized by adulthood-onset of slowly progressive spastic paraplegia of lower limbs presenting with spastic gait, hyperreflexia, and mild lower limb hypertonicity associated with mild intellectual disability, visual agnosia, short and long-term memory deficiency and mild distal motor neuropathy. Bilateral pes cavus and extensor plantar responses are also associated.

AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 14 Is also known as spg14

Related symptoms:

  • Intellectual disability
  • Spasticity
  • Peripheral neuropathy
  • Hyperreflexia
  • Gait disturbance


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 14

Guanidinoacetate methyltransferase (GAMT) deficiency is a creatine deficiency syndrome characterized by global developmental delay/intellectual disability (DD/ID), prominent speech delay, autistic/hyperactive behavioral disorders, seizures, and various types of pyramidal and/or extra-pyramidal manifestations.

GUANIDINOACETATE METHYLTRANSFERASE DEFICIENCY Is also known as gamt deficiency|creatine deficiency syndrome due to gamt deficiency|guanidinoacetate methyltransferase deficiency

Related symptoms:

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


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about GUANIDINOACETATE METHYLTRANSFERASE DEFICIENCY

Charcot-Marie-Tooth disease, type 2H (CMT2H, also referred to as CMT4C2) is an axonal CMT peripheral sensorimotor polyneuropathy associated with pyramidal involvement.

CHARCOT-MARIE-TOOTH DISEASE TYPE 2H Is also known as cmt2h|ar-cmt2c|axonal charcot-marie-tooth disease with pyramidal involvement|autosomal recessive axonal cmt4c2|charcot-marie-tooth disease, axonal, with pyramidal features, autosomal recessive|charcot-marie-tooth neuropathy, axonal, with pyramidal feature

Related symptoms:

  • Skeletal muscle atrophy
  • Pes cavus
  • Distal muscle weakness
  • Distal amyotrophy
  • Distal sensory impairment


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about CHARCOT-MARIE-TOOTH DISEASE TYPE 2H

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

Top 5 symptoms//phenotypes associated to Hyperreflexia and Abnormality of the eye

Symptoms // Phenotype % cases
Spastic paraplegia Uncommon - Between 30% and 50% cases
Spasticity Uncommon - Between 30% and 50% cases
Lower limb spasticity Uncommon - Between 30% and 50% cases
Ataxia Uncommon - Between 30% and 50% cases
Intellectual disability Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Rare Symptoms - Less than 30% cases

Spastic gait Clonus Paraplegia Pes cavus Nystagmus Gait disturbance Hyperactive patellar reflex Hypertonia Absent Achilles reflex Peripheral neuropathy Cerebellar atrophy Scissor gait Abnormality of movement Autistic behavior Abnormal pyramidal sign Intellectual disability, profound Behavioral abnormality Hyperactivity Myoclonus Absence seizures Intellectual disability, severe Delayed speech and language development Muscular hypotonia Involuntary movements Distal muscle weakness Infantile muscular hypotonia Hyperreflexia in upper limbs Motor polyneuropathy Abnormality of the knee Polyneuropathy Sensory neuropathy Inability to walk Difficulty walking Axonal regeneration Decreased number of peripheral myelinated nerve fibers Self-mutilation Steppage gait Foot dorsiflexor weakness Distal sensory impairment Distal amyotrophy Global developmental delay Skeletal muscle atrophy Progressive extrapyramidal movement disorder Generalized hypotonia Babinski sign Seizures Rigidity Head tremor Action tremor Gait ataxia Kinetic tremor Resting tremor Bradykinesia Depressivity Tremor by anatomical site Tremor Limb hypertonia Lower limb hyperreflexia Abnormal cerebellum morphology Abnormality of the cerebral white matter Talipes equinovarus Upper limb postural tremor Muscle weakness Lower limb hypertonia Dysarthria Motor axonal neuropathy Progressive spasticity Lower limb muscle weakness Intellectual disability, mild Progressive cerebellar ataxia Tip-toe gait Paralysis Difficulty standing Sensorineural hearing impairment Abnormal upper motor neuron morphology Abnormal lower motor neuron morphology Bulbar palsy Amyotrophic lateral sclerosis Abnormality of the Achilles tendon


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