Ataxia, and Peripheral demyelination

Diseases related with Ataxia and Peripheral demyelination

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


Top matches:

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 ABRI AMYLOIDOSIS


ABri amyloidosis is a rare, neurodegenerative disease characterized by progressive cognitive impairment, spastic tetraparesis, and cerebellar ataxia resulting from amyloid deposits in the brain. Spasticity with increased deep tendon reflexes and tone are early symptoms, muscular rigidity evolves later. Progressive mental deterioration usually starts with apathy and impaired memory with progression to complete disorientation.

ABRI AMYLOIDOSIS Is also known as presenile dementia with spastic ataxia|fbd|cerebral amyloid angiopathy, british type|familial dementia, british type|dementia, familial british

Related symptoms:

  • Ataxia
  • Spasticity
  • Hyperreflexia
  • Tremor
  • Hypertonia


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about ABRI AMYLOIDOSIS

Low 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

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Other less relevant matches:

Low match CHARCOT-MARIE-TOOTH DISEASE TYPE 4F


Charcot-Marie-Tooth disease type 4F (CMT4F) is a severe, demyelinating subtype of Charcot-Marie-Tooth disease type 4 characterized by the childhood onset of a slowly-progressing typical CMT phenotype (i.e. distal muscle weakness and atrophy, as well as pes cavus) that presents severe sensory loss (frequently with sensory ataxia), moderately to severely reduced motor nerve conduction velocities and almost invariable absence of sensory nerve action potentials, and delayed motor milestones.

CHARCOT-MARIE-TOOTH DISEASE TYPE 4F Is also known as cmt4f

Related symptoms:

  • Scoliosis
  • Ataxia
  • Muscle weakness
  • Motor delay
  • Peripheral neuropathy


SOURCES: ORPHANET OMIM MENDELIAN

More info about CHARCOT-MARIE-TOOTH DISEASE TYPE 4F

Low match ABETALIPOPROTEINEMIA; ABL


Abetalipoproteinemia and familial hypobetalipoproteinemia (FBHL ) are rare diseases characterized by hypocholesterolemia and malabsorption of lipid-soluble vitamins leading to retinal degeneration, neuropathy, and coagulopathy. Hepatic steatosis is also common. The root cause of both disorders is improper packaging and secretion of apolipoprotein B-containing particles. Obligate heterozygous parents of ABL patients usually have normal lipids consistent with autosomal recessive inheritance, whereas obligate heterozygous parents of FBHL patients typically have half normal levels of apoB-containing lipoproteins consistent with autosomal codominant inheritance (summary by Lee and Hegele, 2014).

ABETALIPOPROTEINEMIA; ABL Is also known as microsomal triglyceride transfer protein deficiency|acanthocytosis|bassen-kornzweig syndrome|mtp deficiency

Related symptoms:

  • Ataxia
  • Peripheral neuropathy
  • Rod-cone dystrophy
  • Abnormality of the liver
  • Retinopathy


SOURCES: OMIM MENDELIAN

More info about ABETALIPOPROTEINEMIA; ABL

Low match ROUSSY-LÉVY SYNDROME


ROUSSY-LÉVY SYNDROME Is also known as hereditary areflexic dystasia, roussy-lÉvy type|roussy-levy syndrome

Related symptoms:

  • Ataxia
  • Nystagmus
  • Motor delay
  • Tremor
  • Gait disturbance


SOURCES: OMIM ORPHANET MENDELIAN

More info about ROUSSY-LÉVY SYNDROME

Low match AUTOSOMAL DOMINANT INTERMEDIATE CHARCOT-MARIE-TOOTH DISEASE TYPE B


Autosomal dominant intermediate Charcot-Marie-Tooth disease type B is a rare hereditary motor and sensory neuropathy characterized by intermediate motor median nerve conduction velocities (usually between 25 and 45 m/s) and signs of both demyelination and axonal degeneration in nerve biopsies. It presents with mild to moderately severe, slowly progressive usual clinical features of Charcot-Marie-Tooth disease (muscle weakness and atrophy of the distal extremities, distal sensory loss, reduced or absent deep tendon reflexes, and feet deformities). Other findings include asymptomatic neutropenia and early-onset cataracts.

AUTOSOMAL DOMINANT INTERMEDIATE CHARCOT-MARIE-TOOTH DISEASE TYPE B Is also known as cmtdib|cmtdi1|charcot-marie-tooth neuropathy, dominant intermediate b|di-cmtb

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about AUTOSOMAL DOMINANT INTERMEDIATE CHARCOT-MARIE-TOOTH DISEASE TYPE B

Low match SURF1-RELATED CHARCOT-MARIE-TOOTH DISEASE TYPE 4


SURF1-related Charcot-Marie-Tooth disease type 4 is a subtype of Charcot-Marie-Tooth disease type 4 characterized by childhood onset of severe, progressive, demyelinating sensorimotor neuropathy manifesting with distal muscle weakness and atrophy of hands and feet, distal sensory impairment (vibration and pinprick) of lower limbs, lactic acidosis, areflexia and severely reduced motor nerve conduction velocities (25 m/s or less). Patients may also present kyphoscoliosis, nystagmus, hearing loss, cerebellar ataxia and/or brain MRI abnormalities (putaminal and periaqueductal lesions).

SURF1-RELATED CHARCOT-MARIE-TOOTH DISEASE TYPE 4 Is also known as charcot-marie-tooth disease, demyelinating, autosomal recessive, type 4k|charcot-marie-tooth disease type 4k|surf1-related cmt4|charcot-marie-tooth neuropathy, demyelinating, autosomal recessive, type 4k|surf1-related severe demyelinating charcot-marie-to

Related symptoms:

  • Hearing impairment
  • Ataxia
  • Nystagmus
  • Sensorineural hearing impairment
  • Muscle weakness


SOURCES: ORPHANET OMIM MENDELIAN

More info about SURF1-RELATED CHARCOT-MARIE-TOOTH DISEASE TYPE 4

Low 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

Low match HEREDITARY DIFFUSE LEUKOENCEPHALOPATHY WITH AXONAL SPHEROIDS AND PIGMENTED GLIA


Hereditary diffuse leukoencephalopathy with axonal spheroids and pigmented glia is a rare autosomal dominant disease characterized by a complex phenotype including progressive dementia, apraxia, apathy, impaired balance, parkinsonism, spasticity and epilepsy.

HEREDITARY DIFFUSE LEUKOENCEPHALOPATHY WITH AXONAL SPHEROIDS AND PIGMENTED GLIA Is also known as dementia, familial, neumann type|adult-onset leukoencephalopathy with axonal spheroids and pigmented glia|fpsg|familial progressive subcortical gliosis|leukoencephalopathy with neuroaxonal spheroids, autosomal dominant|pold|alsp|pigmentary orthochromatic

Related symptoms:

  • Seizures
  • Ataxia
  • Spasticity
  • Cognitive impairment
  • Hyperreflexia


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about HEREDITARY DIFFUSE LEUKOENCEPHALOPATHY WITH AXONAL SPHEROIDS AND PIGMENTED GLIA

Top 5 symptoms//phenotypes associated to Ataxia and Peripheral demyelination

Symptoms // Phenotype % cases
Distal sensory impairment Common - Between 50% and 80% cases
Areflexia Common - Between 50% and 80% cases
Peripheral neuropathy Common - Between 50% and 80% cases
Gait disturbance Uncommon - Between 30% and 50% cases
Distal muscle weakness Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Pes cavus Sensory impairment Babinski sign Decreased number of peripheral myelinated nerve fibers Neuronal loss in central nervous system Hyporeflexia Muscle weakness Tremor Skeletal muscle atrophy Gait ataxia Sensory neuropathy Motor delay Dysarthria Difficulty walking Nystagmus Onion bulb formation Lower limb muscle weakness Distal amyotrophy Abnormality of the foot Steppage gait Limb muscle weakness CNS demyelination Sensory ataxia Spasticity Falls Hyperreflexia Dementia

Rare Symptoms - Less than 30% cases


Progressive cerebellar ataxia Unsteady gait Gliosis Decreased motor nerve conduction velocity Kyphoscoliosis Dysphagia Abnormal cerebellum morphology Clumsiness Frequent falls Sensorimotor neuropathy Dysmetria Polyneuropathy Segmental peripheral demyelination/remyelination Abnormal pyramidal sign Hearing impairment Confusion Cerebellar atrophy Progressive neurologic deterioration Postural instability Axonal degeneration Senile plaques Neurofibrillary tangles Alzheimer disease Rigidity Frontotemporal dementia Elevated serum creatine phosphokinase Proximal muscle weakness Generalized hypotonia Inability to walk Myopathy Frontal lobe dementia Demyelinating peripheral neuropathy Axonal loss Decreased nerve conduction velocity Easy fatigability Horizontal nystagmus Increased serum lactate Lactic acidosis Split hand Acidosis Dystonia Sensorineural hearing impairment Segmental peripheral demyelination Peripheral axonal degeneration Waddling gait Cerebral atrophy Gowers sign Glomerulosclerosis Atrophy/Degeneration affecting the brainstem Personality changes Mutism Shuffling gait Leukoencephalopathy Muscle stiffness Leukodystrophy Apraxia Abnormality of extrapyramidal motor function Bradykinesia Memory impairment Brain atrophy Parkinsonism Neurodegeneration Seizures Abnormality of the cerebral white matter Cerebral cortical atrophy Astrocytosis Depressivity Vegetative state Restless legs Inappropriate behavior Diffuse leukoencephalopathy Insomnia Behavioral abnormality Hypoplasia of the corpus callosum Ventriculomegaly Cognitive impairment Focal segmental glomerulosclerosis Abnormality of skin pigmentation Neutropenia Limb ataxia Paralysis Scoliosis Impaired distal vibration sensation Kinetic tremor Impaired proprioception Head tremor Slow saccadic eye movements Action tremor Impaired vibration sensation in the lower limbs Cerebellar vermis atrophy Impaired vibratory sensation Abnormality of eye movement Vocal cord paralysis Agenesis of corpus callosum Cerebral amyloid angiopathy Abnormality of the adrenal glands Apathy Truncal ataxia Mental deterioration Hypertonia Gait instability, worse in the dark Distal sensory impairment of all modalities Distal sensory loss of all modalities Positive Romberg sign Congestive heart failure Foot dorsiflexor weakness Decreased number of large peripheral myelinated nerve fibers Peripheral axonal neuropathy Cholestatic liver disease Paresthesia Edema Cataract Hypertrophic nerve changes Upper limb postural tremor Abnormality of the immune system Hammertoe Abnormality of movement Abetalipoproteinemia Decreased LDL cholesterol concentration Hypocholesterolemia Fat malabsorption Spinocerebellar tract degeneration Vocal cord paresis Acanthocytosis Steatorrhea Abnormality of the coagulation cascade Hepatic steatosis Cirrhosis Retinal degeneration Malabsorption Retinopathy Abnormality of the liver Rod-cone dystrophy Myelin tomacula Basal lamina onion bulb formation Frontal release signs



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