Dysarthria, and Polyneuropathy

Diseases related with Dysarthria and Polyneuropathy

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


Top matches:

High match SPINOCEREBELLAR ATAXIA 46; SCA46


SPINOCEREBELLAR ATAXIA 46; SCA46 Is also known as spinocerebellar ataxia, 46, autosomal dominant, with sensory axonal neuropathy

Related symptoms:

  • Ataxia
  • Nystagmus
  • Peripheral neuropathy
  • Dysarthria
  • Cerebellar atrophy


SOURCES: OMIM MENDELIAN

More info about SPINOCEREBELLAR ATAXIA 46; SCA46

High 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

High match PROGRESSIVE POLYNEUROPATHY WITH BILATERAL STRIATAL NECROSIS


Progressive polyneuropathy with bilateral striatal necrosis is a rare, genetic disorder of thiamine metabolism and transport characterized by the childhood-onset of recurrent episodes of flaccid paralysis and encephalopathy, associated with bilateral striatal necrosis and chronic progressive axonal polyneuropathy with proximal and distal muscle weakness, areflexia, contractures and foot deformities.

PROGRESSIVE POLYNEUROPATHY WITH BILATERAL STRIATAL NECROSIS Is also known as striatal necrosis, bilateral, and progressive polyneuropathy|bilateral striatal degeneration and progressive polyneuropathy

Related symptoms:

  • Muscle weakness
  • Flexion contracture
  • Peripheral neuropathy
  • Dysarthria
  • Skeletal muscle atrophy


SOURCES: OMIM ORPHANET MENDELIAN

More info about PROGRESSIVE POLYNEUROPATHY WITH BILATERAL STRIATAL NECROSIS

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Other less relevant matches:

High match SPINOCEREBELLAR ATAXIA TYPE 23


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

High match SPINOCEREBELLAR ATAXIA 43; SCA43


Spinocerebellar ataxia-43 is an autosomal dominant, slowly progressive neurologic disorder characterized by adult-onset gait and limb ataxia and often associated with peripheral neuropathy mainly affecting the motor system, although some patients may have distal sensory impairment (summary by Depondt et al., 2016).For a general discussion of autosomal dominant spinocerebellar ataxia, see SCA1 (OMIM ).

Related symptoms:

  • Ataxia
  • Nystagmus
  • Pain
  • Peripheral neuropathy
  • Dysarthria


SOURCES: OMIM MENDELIAN

More info about SPINOCEREBELLAR ATAXIA 43; SCA43

High match AUTOSOMAL RECESSIVE CONGENITAL CEREBELLAR ATAXIA DUE TO MGLUR1 DEFICIENCY


Autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiency is a rare, genetic, slowly progressive neurodegenerative disease resulting from MGLUR1 deficiency characterized by global developmental delay (beginning in infancy), mild to severe intellectual deficit with poor or absent speech, moderate to severe stance and gait ataxia, pyramidal signs (e.g. hyperreflexia) and mild dysdiadochokinesia, dysmetria, tremors, and/or dysarthria. Oculomotor signs, such as nystagmus, strabismus, ptosis and hypometric saccades, may also be associated. Brain imaging reveals progressive, generalized, moderate to severe cerebellar atrophy, inferior vermian hypoplasia, and/or constitutionally small brain.

AUTOSOMAL RECESSIVE CONGENITAL CEREBELLAR ATAXIA DUE TO MGLUR1 DEFICIENCY Is also known as autosomal recessive spinocerebellar ataxia type 13|scar13|autosomal recessive congenital cerebellar ataxia due to metabotropic glutamate receptor 1 deficiency

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia


SOURCES: ORPHANET OMIM MENDELIAN

More info about AUTOSOMAL RECESSIVE CONGENITAL CEREBELLAR ATAXIA DUE TO MGLUR1 DEFICIENCY

High match GUILLAIN-BARRE SYNDROME, FAMILIAL; GBS


Guillain-Barre syndrome (GBS) is an acute inflammatory demyelinating polyneuropathy characterized most commonly by symmetric limb weakness and loss of tendon reflexes. It is a putative autoimmune disorder presenting after an infectious illness, most commonly Campylobacter jejuni, a gram-negative bacterium that causes acute enteritis (Yuki and Tsujino, 1995; Koga et al., 2005). Approximately 1 in 1,000 individuals develops GBS after C. jejuni infection (Nachamkin, 2001).Although rare familial cases have been reported, GBS is considered to be a complex multifactorial disorder with both genetic and environmental factors rather than a disorder following simple mendelian inheritance (Geleijns et al., 2004).

GUILLAIN-BARRE SYNDROME, FAMILIAL; GBS Is also known as polyneuropathy, inflammatory demyelinating, acute|aidp

Related symptoms:

  • Ataxia
  • Ptosis
  • Peripheral neuropathy
  • Dysarthria
  • Dysphagia


SOURCES: ORPHANET OMIM MENDELIAN

More info about GUILLAIN-BARRE SYNDROME, FAMILIAL; GBS

High match POLYENDOCRINE-POLYNEUROPATHY SYNDROME


Related symptoms:

  • Intellectual disability
  • Short stature
  • Hearing impairment
  • Ataxia
  • Growth delay


SOURCES: ORPHANET OMIM MENDELIAN

More info about POLYENDOCRINE-POLYNEUROPATHY SYNDROME

High match RIBOSE-5-P ISOMERASE DEFICIENCY


Ribose-5-P isomerase deficiency is an extremely rare, hereditary, disorder of pentose phosphate metabolism characterized by progressive leukoencephalopathy and a highly increased ribitol and D-arabitol levels in the brain and body fluids. Clinical presentation includes psychomotor delay, epilepsy, and childhood-onset slow neurological regression with ataxia, spasticity, optic atrophy and sensorimotor neuropathy.

Related symptoms:

  • Seizures
  • Global developmental delay
  • Ataxia
  • Nystagmus
  • Spasticity


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about RIBOSE-5-P ISOMERASE DEFICIENCY

High match CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE G; CMTDIG


CMTDIG is an autosomal dominant neurologic disorder with a highly variable phenotype. Most affected individuals have onset in the first or second decades of slowly progressive distal motor weakness and atrophy, resulting in gait instability and distal upper limb impairment, as well as distal sensory impairment. More severely affected individuals may have pes cavus and claw hands and become wheelchair-bound, whereas other affected individuals have later onset with a milder disease course. Electrophysiologic studies tend to show median motor nerve conduction velocities (NCV) in the 'intermediate' range, between 25 and 45 m/s (summary by Berciano et al., 2017).In a review of intermediate CMT, Berciano et al. (2017) noted that advanced axonal degeneration may induce secondary demyelinating changes resulting in decreased NCV and attenuated compound muscle action potential (CMAP) in median nerve conduction studies. They thus suggested that testing the upper arm, axilla to elbow, may provide more accurate assessment of NCV and CMAP and reveal an intermediate phenotype (review by Berciano et al., 2017).For a discussion of genetic heterogeneity of CMTDI, see {606482}.

Related symptoms:

  • Generalized hypotonia
  • Hearing impairment
  • Ataxia
  • Nystagmus
  • Muscle weakness


SOURCES: OMIM MENDELIAN

More info about CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE G; CMTDIG

Top 5 symptoms//phenotypes associated to Dysarthria and Polyneuropathy

Symptoms // Phenotype % cases
Ataxia Very Common - Between 80% and 100% cases
Peripheral neuropathy Common - Between 50% and 80% cases
Cerebellar atrophy Common - Between 50% and 80% cases
Nystagmus Common - Between 50% and 80% cases
Sensory impairment Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Dysarthria and Polyneuropathy. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Hyporeflexia Distal sensory impairment Dysmetria Pes cavus Gait ataxia Areflexia Abnormal pyramidal sign Muscle weakness Sensorimotor neuropathy Unsteady gait Tremor Abnormality of eye movement Slow saccadic eye movements Limb ataxia

Rare Symptoms - Less than 30% cases


Hyperreflexia Cerebellar vermis atrophy Babinski sign Spasticity Progressive cerebellar ataxia Peripheral demyelination Motor delay Intellectual disability Hypometric saccades Generalized hypotonia Seizures Global developmental delay Hearing impairment Limb muscle weakness Esotropia Ptosis Short stature Skeletal muscle atrophy Frequent falls Peripheral axonal neuropathy Abnormality of the foot Falls Sensory neuropathy Hypoglycemia Optic atrophy Central hypothyroidism Glucose intolerance Progressive hearing impairment Type I diabetes mellitus Postnatal growth retardation Intellectual disability, moderate Limb joint contracture Hypothyroidism Leukoencephalopathy Diabetes mellitus Hypogonadism Cerebellar hypoplasia Dystonia Abnormal cerebellum morphology Growth delay Sensory axonal neuropathy Acute demyelinating polyneuropathy Bulbar palsy Ophthalmoparesis Cirrhosis Increased level of xylitol in urine Increased level of ribose in CSF Elevated serum creatine phosphokinase Steppage gait Gowers sign Clumsiness Split hand Waddling gait Postural instability Inability to walk Lower limb muscle weakness Distal muscle weakness Proximal muscle weakness Myopathy Elevated circulating ribitol concentration Gait disturbance Decreased level of erythritol in urine Decreased level of erythritol in CSF Increased level of xylitol in CSF Increased level of D-threitol in plasma Increased level of ribitol in CSF Increased level of D-threitol in urine Increased level of D-threitol in CSF Increased level of ribose in urine Increased level of ribitol in urine Sensory ataxia Tetraplegia Respiratory failure Ophthalmoplegia Action tremor Distal amyotrophy Pectus carinatum Rigidity Pain Impaired distal vibration sensation Kinetic tremor CNS demyelination Impaired proprioception Head tremor Impaired vibration sensation in the lower limbs Cogwheel rigidity Impaired vibratory sensation Talipes equinovarus Encephalopathy Neuronal loss in central nervous system Difficulty walking Paralysis Dementia Lethargy Agenesis of corpus callosum Increased CSF lactate Distal lower limb amyotrophy Flexion contracture Autoimmunity Horizontal nystagmus Contractures of the joints of the lower limbs Dysphagia Abnormality of ocular abduction Inferior vermis hypoplasia Retrocerebellar cyst Functional motor deficit Limb dysmetria Gaze-evoked horizontal nystagmus Difficulty standing Dysdiadochokinesis Intellectual disability, profound Limb pain Positive Romberg sign Neurological speech impairment Pes planus Absent speech Ventriculomegaly Sensory ataxic neuropathy Square-wave jerks Apraxia Oculomotor apraxia Palmomental reflex Axonal degeneration



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