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:

  • Autosomal dominant inheritance
  • Ataxia
  • Dysarthria
  • Gait disturbance
  • Dysphagia


SOURCES: DOID UMLS OMIM MONDO

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

Low match CEREBRAL AMYLOID ANGIOPATHY, ITM2B-RELATED, 1

CEREBRAL AMYLOID ANGIOPATHY, ITM2B-RELATED, 1 Is also known as dementia, familial british;fbd, presenile dementia with spastic ataxia, cerebral amyloid angiopathy, british type;familial dementia, british type

Related symptoms:

  • Autosomal dominant inheritance
  • Ataxia
  • Spasticity
  • Hyperreflexia
  • Tremor


SOURCES: OMIM DOID MONDO MESH GARD UMLS ORPHANET

More info about CEREBRAL AMYLOID ANGIOPATHY, ITM2B-RELATED, 1

Low match SPINOCEREBELLAR ATAXIA 23; SCA23

Spinocerebellar ataxia-23 is an adult-onset autosomal dominant neurodegenerative disorder characterized by slowly progressive gait and limb ataxia, with variable additional features, including peripheral neuropathy and dysarthria (Bakalkin et al., 2010).For a general discussion of autosomal dominant spinocerebellar ataxia, see SCA1 (OMIM ).

SPINOCEREBELLAR ATAXIA 23; SCA23 Is also known as ;sca23

Related symptoms:

  • Autosomal dominant inheritance
  • Ataxia
  • Peripheral neuropathy
  • Dysarthria
  • Hyperreflexia


SOURCES: DOID MONDO SCTID MESH GARD ORPHANET OMIM UMLS

More info about SPINOCEREBELLAR ATAXIA 23; SCA23

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Other less relevant matches:

Low match CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 4F; CMT4F

Charcot-Marie-Tooth disease type 4F is an autosomal recessive demyelinating neuropathy characterized by distal sensory impairment and distal muscle weakness and atrophy affecting the lower more than the upper limbs. Nerve conduction velocities are decreased and sural nerve biopsy shows loss of myelinated fibers. The age at onset is variable and can range from childhood to adult years. When the onset is in infancy, the phenotype is characterized as Dejerine-Sottas syndrome (DSS ).For a phenotypic description and a discussion of genetic heterogeneity of autosomal recessive demyelinating Charcot-Marie-Tooth disease, see CMT4A (OMIM ).

CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 4F; CMT4F Is also known as ;cmt4f

Related symptoms:

  • Autosomal recessive inheritance
  • Pica
  • Scoliosis
  • Ataxia
  • Motor delay


SOURCES: SCTID ORPHANET DOID OMIM GARD UMLS MONDO

More info about CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 4F; CMT4F

Low match CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE B; CMTDIB

Charcot-Marie-Tooth disease is a clinically and genetically heterogeneous disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. ClassificationCMT neuropathy is subdivided into CMT1 (see {118200}) and CMT2 (see {118210}) types on the basis of electrophysiologic and neuropathologic criteria. CMT1, or hereditary motor and sensory neuropathy type I (HMSN I), is a demyelinating neuropathy, whereas CMT2, or HMSN II, is an axonal neuropathy. Most patients with CMT are classified as having CMT1 or CMT2 by use of a cut-off value of 38 m/s for the motor median nerve conduction velocity (NCV). However, in some families with CMT, patients have motor median NCVs ranging from 25 to 45 m/s. Families of this type were reported by Salisachs (1974) and Davis et al. (1978). Davis et al. (1978) proposed that this form be designated 'intermediate' CMT.Claeys et al. (2009) stated that some CMT families may have an even broader range of NCV than 25 to 45 m/s, with the lowest levels around 25 and the highest levels within the normal range (50+ m/s). They also suggested that the term 'intermediate' should not be used to describe a single NCV value, but rather the CMT subtype at the level of the family (e.g., in families with a range or combinations of NCV values). Genetic Heterogeneity of Autosomal Dominant Intermediate CMTIn addition to CMTDIB, which is caused by mutation in the DNM2 gene, other forms of dominant intermediate CMT include CMTDIC (OMIM ), caused by mutation in the YARS gene (OMIM ) on chromosome 1p35-p34l; CMTDID (OMIM ), caused by mutation in the MPZ gene (OMIM ) on chromosome 1q22; CMTDIE with focal segmental glomerulosclerosis (CMTDIE ), caused by mutation in the INF2 gene (OMIM ) on chromosome 14q; and CMTDIF (OMIM ), caused by mutation in the GNB4 gene (OMIM ) on chromosome 3q26. CMTDIA (OMIM ) has been mapped to chromosome 10q24.1-q25.1.

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

Related symptoms:

  • Autosomal dominant inheritance
  • Ataxia
  • Cataract
  • Muscle weakness
  • Peripheral neuropathy


SOURCES: ORPHANET OMIM

More info about CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE B; CMTDIB

Low match CHARCOT-MARIE-TOOTH DISEASE, TYPE 4K; CMT4K

Charcot-Marie-Tooth disease type 4K is an autosomal recessive demyelinating peripheral neuropathy characterized by onset in the first decade of distal muscle weakness and atrophy associated with impaired distal sensation. Both upper and lower limbs are affected. Affected individuals may also have nystagmus and late-onset cerebellar ataxia. Laboratory studies show increased serum lactate and isolated mitochondrial complex IV deficiency (summary by Echaniz-Laguna et al., 2013).For a phenotypic description and a discussion of genetic heterogeneity of autosomal recessive demyelinating Charcot-Marie-Tooth disease, see CMT4A (OMIM ).

CHARCOT-MARIE-TOOTH DISEASE, TYPE 4K; CMT4K Is also known as charcot-marie-tooth disease, demyelinating, autosomal recessive, type 4k, charcot-marie-tooth neuropathy, demyelinating, autosomal recessive, type 4k;cmt4k; charcot-marie-tooth disease type 4k; surf1-related cmt4; surf1-related severe demyelinating charcot-marie-tooth disease

Related symptoms:

  • Autosomal recessive inheritance
  • Hearing impairment
  • Scoliosis
  • Ataxia
  • Nystagmus


SOURCES: UMLS OMIM MONDO ORPHANET DOID

More info about CHARCOT-MARIE-TOOTH DISEASE, TYPE 4K; CMT4K

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 acanthocytosis, bassen-kornzweig syndrome, microsomal triglyceride transfer protein deficiency, mtp deficiency

Related symptoms:

  • Autosomal recessive inheritance
  • Ataxia
  • Nevus
  • Peripheral neuropathy
  • Rod-cone dystrophy


SOURCES: OMIM

More info about ABETALIPOPROTEINEMIA; ABL

Low 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: OMIM MONDO NCIT SCTID ORPHANET

More info about GUILLAIN-BARRE SYNDROME, FAMILIAL; GBS

Low match ROUSSY-LEVY HEREDITARY AREFLEXIC DYSTASIA

ROUSSY-LEVY HEREDITARY AREFLEXIC DYSTASIA Is also known as roussy-levy syndrome;hereditary areflexic dystasia, roussy-lévy type

Related symptoms:

  • Autosomal dominant inheritance
  • Ataxia
  • Nystagmus
  • Motor delay
  • Milia


SOURCES: OMIM ORPHANET

More info about ROUSSY-LEVY HEREDITARY AREFLEXIC DYSTASIA

Low match METACHROMATIC LEUKODYSTROPHY DUE TO SAPOSIN B DEFICIENCY

METACHROMATIC LEUKODYSTROPHY DUE TO SAPOSIN B DEFICIENCY Is also known as metachromatic leukodystrophy due to cerebroside sulfatase activator deficiency, saposin b deficiency

Related symptoms:

  • Autosomal recessive inheritance
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Muscular hypotonia


SOURCES: MONDO SCTID GARD OMIM MESH

More info about METACHROMATIC LEUKODYSTROPHY DUE TO SAPOSIN B DEFICIENCY

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

Symptoms // Phenotype % cases
Peripheral neuropathy Common - Between 50% and 80% cases
Autosomal dominant inheritance Uncommon - Between 30% and 50% cases
Areflexia Uncommon - Between 30% and 50% cases
Distal sensory impairment Uncommon - Between 30% and 50% cases
Gait ataxia 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


Slow progression Sensory ataxia Sensory impairment Falls Pes cavus Babinski sign Hyporeflexia Autosomal recessive inheritance Dysarthria Limb muscle weakness Distal amyotrophy Onion bulb formation Distal muscle weakness Sensory neuropathy Difficulty walking CNS demyelination Muscle weakness Tremor Neuronal loss in central nervous system Gait disturbance Dysphagia Decreased nerve conduction velocity Hyperreflexia Segmental peripheral demyelination/remyelination

Rare Symptoms - Less than 30% cases


Kyphoscoliosis Decreased motor nerve conduction velocity Steppage gait Nystagmus Abnormal cerebellum morphology Unsteady gait Lower limb muscle weakness Dysmetria Scoliosis Motor delay Decreased number of peripheral myelinated nerve fibers Abnormality of the foot Nevus Dementia Frequent falls Mental deterioration Paresthesia Juvenile onset Skeletal muscle atrophy Abnormality of the liver Horizontal nystagmus Retinopathy Retinal degeneration Spinocerebellar tract degeneration Acanthocytosis Malabsorption Abnormality of skin pigmentation Cholestatic liver disease Hepatic steatosis Cirrhosis Rod-cone dystrophy Fat malabsorption Easy fatigability Steatorrhea Axonal loss Difficulty climbing stairs Abetalipoproteinemia Polyneuropathy Hypertrophic nerve changes Seizures Global developmental delay Generalized hypotonia Muscular hypotonia Developmental regression Urinary incontinence Abnormality of the immune system Tetraparesis Hemiparesis Leukodystrophy Spastic tetraparesis Abnormality of the periventricular white matter Motor deterioration Loss of speech Upper limb postural tremor Hammertoe Ptosis Bulbar palsy Coma Respiratory failure Ophthalmoplegia Tetraplegia Esotropia Ophthalmoparesis Hand muscle weakness Clumsiness Abnormal nerve conduction velocity Fatiguable weakness of proximal limb muscles Spontaneous pain sensation Motor conduction block Acute demyelinating polyneuropathy Milia Abnormality of movement Increased serum lactate Vocal cord paresis Lactic acidosis Apathy Progressive cerebellar ataxia Abnormality of eye movement Abnormal pyramidal sign Cerebral cortical atrophy Agenesis of corpus callosum Cerebellar atrophy Cerebral amyloid angiopathy Abnormality of the adrenal glands Senile plaques Neurofibrillary tangles Alzheimer disease Truncal ataxia Sensorimotor neuropathy Progressive neurologic deterioration Confusion Rigidity Hypertonia Spasticity Gait instability, worse in the dark Distal sensory impairment of all modalities Distal sensory loss of all modalities Positive Romberg sign Gliosis Adult onset Congestive heart failure Limb ataxia Impaired vibratory sensation Acidosis Myelin tomacula Dystonia Sensorineural hearing impairment Hearing impairment Segmental peripheral demyelination Peripheral axonal degeneration Axonal degeneration Neutropenia Peripheral axonal neuropathy Heterogeneous Edema Pain Cataract Basal lamina onion bulb formation Cerebellar vermis atrophy Decreased number of large peripheral myelinated nerve fibers Vocal cord paralysis Foot dorsiflexor weakness Paralysis Pica Impaired distal vibration sensation Kinetic tremor Impaired proprioception Action tremor Slow saccadic eye movements Head tremor Impaired vibration sensation in the lower limbs Spastic hemiparesis



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Other signs and symptoms that you may find interesting

Hepatomegaly and Narrow chest, related diseases and genetic alterations Hydrocephalus and Tachycardia, related diseases and genetic alterations Visual impairment and Acidosis, related diseases and genetic alterations Cleft palate and Microtia, related diseases and genetic alterations Hypertension and Retinal degeneration, related diseases and genetic alterations Scoliosis and Leukoencephalopathy, related diseases and genetic alterations