Hyperreflexia, and Unsteady gait

Diseases related with Hyperreflexia and Unsteady gait

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

Top matches:

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

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

Autosomal recessive spastic paraplegia type 28 is a pure form of hereditary spastic paraplegia characterized by a childhood or adolescent onset of slowly progressive, pure crural muscle spastic paraparesis which manifests with mild lower limb weakness, gait difficulties, extensor plantar responses, and hyperreflexia of lower extremities. Less common manifestations include cerebellar oculomotor disturbance with saccadic eye pursuit, pes cavus and scoliosis. Some patients also present pin and vibration sensory loss in distal legs.

AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 28 Is also known as spg28

Related symptoms:

  • Scoliosis
  • Spasticity
  • Peripheral neuropathy
  • Hyperreflexia
  • Babinski sign


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 28

Other less relevant matches:

Spinocerebellar ataxia type 40 (SCA40) is a very rare subtype of autosomal dominant cerebellar ataxia type 1, characterized by the adult-onset of unsteady gait and dysarthria, followed by wide-based gait, gait ataxia, ocular dysmetria, intention tremor, scanning speech, hyperreflexia and dysdiadochokinesis.

SPINOCEREBELLAR ATAXIA TYPE 40 Is also known as sca40

Related symptoms:

  • Ataxia
  • Hyperreflexia
  • Dysarthria
  • Tremor
  • Gait ataxia


SOURCES: ORPHANET OMIM MENDELIAN

More info about SPINOCEREBELLAR ATAXIA TYPE 40

Spinocerebellar ataxia type 12 (SCA12) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by the presence of action tremor associated with relatively mild cerebellar ataxia. Associated pyramidal and extrapyramidal signs and dementia have been reported.

SPINOCEREBELLAR ATAXIA TYPE 12 Is also known as sca12

Related symptoms:

  • Ataxia
  • Cognitive impairment
  • Hyperreflexia
  • Gait disturbance
  • Cerebellar atrophy


SOURCES: ORPHANET MENDELIAN

More info about SPINOCEREBELLAR ATAXIA TYPE 12

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about GAZE PALSY, FAMILIAL HORIZONTAL, WITH PROGRESSIVE SCOLIOSIS, 2; HGPPS2

CHILDHOOD-ONSET BASAL GANGLIA DEGENERATION SYNDROME Is also known as lenk-ploski syndrome

Related symptoms:

  • Delayed speech and language development
  • Hyperreflexia
  • Dysphagia
  • Hypertonia
  • Dystonia


SOURCES: ORPHANET OMIM MENDELIAN

More info about CHILDHOOD-ONSET BASAL GANGLIA DEGENERATION SYNDROME

Related symptoms:

  • Intellectual disability
  • Ataxia
  • Nystagmus
  • Spasticity
  • Hyperreflexia


SOURCES: OMIM MENDELIAN

More info about SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 22; SCAR22

SPG56 is an autosomal recessive neurodegenerative disorder characterized by early-onset progressive lower-limb spasticity resulting in walking difficulties. Upper limbs are often also affected, and some patients may have a subclinical axonal neuropathy (summary by Tesson et al., 2012).For a general phenotypic description and a discussion of genetic heterogeneity of autosomal recessive spastic paraplegia, see {270800}.

AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 56 Is also known as spg56

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Spasticity
  • Cognitive impairment
  • Motor delay


SOURCES: OMIM ORPHANET MENDELIAN

More info about AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 56

Spinocerebellar ataxia type 6 (SCA6) is the most common subtype of autosomal dominant cerebellar ataxia type III (ADCA type III; see this term) characterized by late-onset and slowly progressive gait ataxia and other cerebellar signs such as impaired muscle coordination and nystagmus.

SPINOCEREBELLAR ATAXIA TYPE 6 Is also known as sca6

Related symptoms:

  • Nystagmus
  • Hyperreflexia
  • Dysarthria
  • Dysphagia
  • Dystonia


SOURCES: ORPHANET MENDELIAN

More info about SPINOCEREBELLAR ATAXIA TYPE 6

Top 5 symptoms//phenotypes associated to Hyperreflexia and Unsteady gait

Symptoms // Phenotype % cases
Ataxia Uncommon - Between 30% and 50% cases
Intention tremor Uncommon - Between 30% and 50% cases
Dysarthria Uncommon - Between 30% and 50% cases
Cerebellar atrophy Uncommon - Between 30% and 50% cases
Intellectual disability Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Postural instability Dystonia Gait ataxia Nystagmus Babinski sign Dysmetria Tremor Peripheral neuropathy Motor delay Delayed speech and language development Spasticity

Rare Symptoms - Less than 30% cases

Peripheral axonal neuropathy Lower limb spasticity Spastic gait Falls Generalized hypotonia Dysphagia Paraplegia Cognitive impairment Abnormal pyramidal sign Abnormal cerebellum morphology Global developmental delay Hypoplasia of the corpus callosum Spastic paraplegia Progressive cerebellar ataxia Scoliosis Loss of ability to walk Abnormality of the cerebral white matter Hypoplasia of the pons Blepharospasm Vertical nystagmus Bimanual synkinesia Gaze-evoked horizontal nystagmus Agenesis of corpus callosum Ankle clonus Clonus Incoordination Choking episodes Tremor by anatomical site Limb dysmetria Hypertonia Absent speech Action tremor Elevated serum creatine phosphokinase Developmental regression Abnormality of vision Diplopia Frequent falls Drooling Steppage gait Abnormal globus pallidus morphology Basal ganglia calcification Excessive salivation Craniofacial dystonia Lower limb hyperreflexia Toe walking Truncal ataxia Poor fine motor coordination Vertical supranuclear gaze palsy Hypokinesia Saccadic smooth pursuit Distal sensory impairment Lower limb muscle weakness Limb muscle weakness Rigidity Difficulty walking Pes cavus Delayed gross motor development Pain insensitivity Limb ataxia Abnormality of eye movement Abnormality of the eye Intellectual disability, moderate Hyporeflexia Seizures Sensory neuropathy Sensory impairment Impaired tactile sensation Postural tremor Gait disturbance Sensorimotor neuropathy Bradykinesia Parkinsonism Dementia Cerebral atrophy Behavioral abnormality Functional motor deficit Abolished vibration sense Pontocerebellar atrophy Scanning speech Dysdiadochokinesis Spastic paraparesis Paraparesis Broad-based gait Neurological speech impairment Bradyopsia


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