Ataxia, and Hyporeflexia

Diseases related with Ataxia and Hyporeflexia

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


Top matches:

Low match AUTOSOMAL RECESSIVE CEREBELLAR ATAXIA-EPILEPSY-INTELLECTUAL DISABILITY SYNDROME DUE TO RUBCN DEFICIENCY


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

Low match ATAXIA-OCULOMOTOR APRAXIA 3; AOA3


AOA3 is an autosomal recessive progressive neurologic disorder with onset in the second decade of life (Al Tassan et al., 2012).For a discussion of genetic heterogeneity of ataxia-oculomotor apraxia, see AOA1 (OMIM ).

Related symptoms:

  • Ataxia
  • Nystagmus
  • Muscle weakness
  • Dysarthria
  • Cerebellar atrophy


SOURCES: OMIM MENDELIAN

More info about ATAXIA-OCULOMOTOR APRAXIA 3; AOA3

Low match DNAJB2-RELATED CHARCOT-MARIE-TOOTH DISEASE TYPE 2


Charcot-Marie-Tooth disease type 2T (CMT2T) is a slowly progressive autosomal recessive sensorimotor peripheral neuropathy with onset in middle age (Higuchi et al., 2016).For a phenotypic description and a discussion of genetic heterogeneity of axonal CMT, see CMT2A1 (OMIM ).

DNAJB2-RELATED CHARCOT-MARIE-TOOTH DISEASE TYPE 2 Is also known as charcot-marie-tooth neuropathy, type 2t|charcot-marie-tooth disease, axonal, autosomal recessive, type 2t|dnajb2-related cmt2

Related symptoms:

  • Ataxia
  • Cognitive impairment
  • Peripheral neuropathy
  • Gait disturbance
  • Cerebral atrophy


SOURCES: OMIM ORPHANET MENDELIAN

More info about DNAJB2-RELATED CHARCOT-MARIE-TOOTH DISEASE TYPE 2

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Other less relevant matches:

Low match SPINOCEREBELLAR ATAXIA TYPE 4


Spinocerebellar ataxia type 4 (SCA4) is a very rare progressive and untreatable subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term) characterized by ataxia with sensory neuropathy.

SPINOCEREBELLAR ATAXIA TYPE 4 Is also known as spinocerebellar ataxia, autosomal dominant, with sensory axonal neuropathy|sca4

Related symptoms:

  • Ataxia
  • Muscle weakness
  • Peripheral neuropathy
  • Dysarthria
  • Gait disturbance


SOURCES: OMIM ORPHANET MENDELIAN

More info about SPINOCEREBELLAR ATAXIA TYPE 4

Low match SPINOCEREBELLAR ATAXIA TYPE 14


Spinocerebellar ataxia type 14 (SCA14) is a rare mild subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by slowly progressive ataxia, dysarthria and nystagmus.

SPINOCEREBELLAR ATAXIA TYPE 14 Is also known as sca14

Related symptoms:

  • Generalized hypotonia
  • Cognitive impairment
  • Dysarthria
  • Tremor
  • Myoclonus


SOURCES: ORPHANET MENDELIAN

More info about SPINOCEREBELLAR ATAXIA TYPE 14

Low match ATAXIA, SENSORY, 1, AUTOSOMAL DOMINANT; SNAX1


ATAXIA, SENSORY, 1, AUTOSOMAL DOMINANT; SNAX1 Is also known as adsa

Related symptoms:

  • Ataxia
  • Dysarthria
  • Gait disturbance
  • Dysphagia
  • Congestive heart failure


SOURCES: OMIM MENDELIAN

More info about ATAXIA, SENSORY, 1, AUTOSOMAL DOMINANT; SNAX1

Low match LOWER MOTOR NEURON SYNDROME WITH LATE-ADULT ONSET


The Jokela type of spinal muscular atrophy (SMAJ) is an autosomal dominant lower motor neuron disorder characterized by adult-onset of muscle cramps and fasciculations affecting the proximal and distal muscles of the upper and lower limbs. The disorder is slowly progressive, resulting in weakness and mild muscle atrophy later in life (summary by Jokela et al., 2011).

Related symptoms:

  • Ataxia
  • Muscle weakness
  • Skeletal muscle atrophy
  • Tremor
  • Gait disturbance


SOURCES: ORPHANET OMIM MENDELIAN

More info about LOWER MOTOR NEURON SYNDROME WITH LATE-ADULT ONSET

Low match MENTAL RETARDATION, AUTOSOMAL RECESSIVE 53; MRT53


Autosomal recessive mental retardation-53 is a neurodevelopmental disorder characterized by severely delayed psychomotor development, hypotonia apparent since infancy, and early-onset seizures in most patients. Some patients may have additional features, such as cerebellar hypoplasia and ataxia. MRT53 is one of a group of similar neurologic disorders resulting from biochemical defects in the glycosylphosphatidylinositol (GPI) biosynthetic pathway (summary by Makrythanasis et al., 2016).For a discussion of genetic heterogeneity of GPI biosynthesis defects, see GPIBD1 (OMIM ).

MENTAL RETARDATION, AUTOSOMAL RECESSIVE 53; MRT53 Is also known as glycosylphosphatidylinositol biosynthesis defect 13|gpibd13

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL RECESSIVE 53; MRT53

Low match SPINOCEREBELLAR ATAXIA TYPE 21


Spinocerebellar ataxia type 21 (SCA21) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by slowly progressive cerebellar ataxia, mild cognitive impairment, postural and/or resting tremor, bradykinesia, and rigidity.

SPINOCEREBELLAR ATAXIA TYPE 21 Is also known as sca21

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Ataxia
  • Nystagmus
  • Neoplasm


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about SPINOCEREBELLAR ATAXIA TYPE 21

Low match ACUTE INFLAMMATORY DEMYELINATING POLYRADICULONEUROPATHY


Acute inflammatory demyelinating polyradiculoneuropathy (AIDP) is an inflammatory neuropathy belonging to the clinical spectrum of Guillain-Barré syndrome (GBS; see this term).

ACUTE INFLAMMATORY DEMYELINATING POLYRADICULONEUROPATHY Is also known as guillain-barrÉ syndrome, acute inflammatory demyelinating polyradiculoneuropathic form|aidp|acute inflammatory polyneuropathy|acute idiopathic demyelinating polyneuropathy|gbs, acute inflammatory demyelinating polyradiculoneuropathic form

Related symptoms:

  • Generalized hypotonia
  • Hyporeflexia
  • Gait ataxia
  • Unsteady gait
  • Drooling


SOURCES: ORPHANET MENDELIAN

More info about ACUTE INFLAMMATORY DEMYELINATING POLYRADICULONEUROPATHY

Top 5 symptoms//phenotypes associated to Ataxia and Hyporeflexia

Symptoms // Phenotype % cases
Dysarthria Common - Between 50% and 80% cases
Distal sensory impairment Uncommon - Between 30% and 50% cases
Areflexia Uncommon - Between 30% and 50% cases
Babinski sign Uncommon - Between 30% and 50% cases
Unsteady gait Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Sensory impairment Gait ataxia Gait disturbance Cerebellar atrophy Tremor Generalized hypotonia Progressive cerebellar ataxia Limb ataxia Cognitive impairment Muscle weakness Dysmetria Nystagmus Intellectual disability

Rare Symptoms - Less than 30% cases


Cerebral atrophy Peripheral neuropathy Slow saccadic eye movements Global developmental delay Saccadic smooth pursuit Cerebellar vermis atrophy Falls Rigidity Fasciculations Delayed speech and language development Seizures Cerebellar hypoplasia Absent speech Hypoplasia of the corpus callosum Intellectual disability, profound Severe muscular hypotonia Amyotrophic lateral sclerosis Intrauterine growth retardation Bulbar signs Frontotemporal dementia Mitochondrial myopathy Neoplasm Calf muscle hypertrophy Hammertoe Spinal muscular atrophy Ragged-red muscle fibers Progressive muscle weakness Intention tremor EEG with focal spikes Impulsivity Intellectual disability, severe Dysgraphia Sleepy facial expression Acute demyelinating polyneuropathy Dysesthesia Distal lower limb muscle weakness EMG: neuropathic changes Episodic fever Onion bulb formation Drooling Microsaccadic pursuit Intermittent microsaccadic pursuits Scanning speech Cogwheel rigidity Behavioral abnormality Resting tremor Akinesia Difficulty walking Postural tremor Apathy Diplopia Clumsiness Abnormality of extrapyramidal motor function Parkinsonism Ophthalmoplegia Aggressive behavior Muscle cramps Abnormal cerebellum morphology Pes planus Abnormal pyramidal sign Sensory axonal neuropathy Impaired vibratory sensation Sensory neuropathy Abnormality of movement Poor speech Alzheimer disease Foot dorsiflexor weakness Sensorimotor neuropathy Peripheral axonal neuropathy Oculomotor apraxia Motor axonal neuropathy Frequent falls Apraxia Polyneuropathy Delayed gross motor development Postural instability Abnormality of eye movement Abnormality of the eye Intellectual disability, moderate Hyperreflexia Motor delay Impaired smooth pursuit Motor deterioration Dementia Peripheral demyelination Pes cavus Elevated serum creatine phosphokinase Myopathy Skeletal muscle atrophy Gait instability, worse in the dark Distal sensory impairment of all modalities Distal sensory loss of all modalities Positive Romberg sign Sensory ataxia Neuronal loss in central nervous system Absent Achilles reflex Gliosis Congestive heart failure Dysphagia Abnormality of the Achilles tendon Hyporeflexia of lower limbs Gaze-evoked nystagmus Myoclonus Impaired tactile sensation Limb dysmetria Impaired proprioception Impaired oropharyngeal swallow response



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