Autoimmunity, and Unsteady gait

Diseases related with Autoimmunity and Unsteady gait

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


Top matches:

Low match KURU, SUSCEPTIBILITY TO


Kuru, a fatal neurodegenerative condition, is a human prion disease that primarily affected the Fore linguistic group of the Eastern Highlands of Papua New Guinea. Kuru was transmitted by the practice of consuming dead relatives as a mark of respect and mourning ('transumption'). The incidence has fallen dramatically since the cessation of cannibalism in the 1950s (summary by Wadsworth et al., 2008).

Related symptoms:

  • Ataxia
  • Mental deterioration
  • Abnormality of eye movement
  • Unsteady gait
  • Neurodegeneration


SOURCES: OMIM MENDELIAN

More info about KURU, SUSCEPTIBILITY TO

Low match AUTOSOMAL DOMINANT CHARCOT-MARIE-TOOTH DISEASE TYPE 2Y


Charcot-Marie-Tooth disease type 2Y is an autosomal dominant peripheral neuropathy characterized by distal muscle weakness and atrophy associated with length-dependent sensory loss. Most patients have involvement of both the lower and upper limbs. The age at onset and the severity of the disorder are highly variable (summary by Gonzalez et al., 2014).For a phenotypic description and a discussion of genetic heterogeneity of axonal CMT, see CMT2A1 (OMIM ).

AUTOSOMAL DOMINANT CHARCOT-MARIE-TOOTH DISEASE TYPE 2Y Is also known as charcot-marie-tooth disease, axonal, autosomal dominant, type 2y|cmt2y|autosomal dominant charcot-marie-tooth disease type 2 due to vcp mutation|cmt2 due to vcp mutation|charcot-marie-tooth neuropathy, type 2y

Related symptoms:

  • Muscle weakness
  • Peripheral neuropathy
  • Dysarthria
  • Skeletal muscle atrophy
  • Behavioral abnormality


SOURCES: ORPHANET OMIM MENDELIAN

More info about AUTOSOMAL DOMINANT CHARCOT-MARIE-TOOTH DISEASE TYPE 2Y

Low match GORDON HOLMES SYNDROME; GDHS


Gordon Holmes syndrome is an autosomal recessive adult-onset neurodegenerative disorder characterized by progressive cognitive decline, dementia, and variable movement disorders, such as ataxia and chorea. The neurologic phenotype is associated with hypogonadotropic hypogonadism (summary by Santens et al., 2015).

GORDON HOLMES SYNDROME; GDHS Is also known as cahh|cerebellar ataxia and hypogonadotropic hypogonadism|luteinizing hormone-releasing hormone, deficiency of, with ataxia|lhrh deficiency and ataxia

Related symptoms:

  • Hearing impairment
  • Ataxia
  • Dysarthria
  • Abnormality of the skeletal system
  • Cerebellar atrophy


SOURCES: OMIM MENDELIAN

More info about GORDON HOLMES SYNDROME; GDHS

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Other less relevant matches:

Low match SPORADIC CREUTZFELDT-JAKOB DISEASE


Sporadic Creutzfeldt-Jakob disease (sCJD) is a subacute fatal neurodegenerative disease belonging to the group of prion diseases, characterized by a clinical triad of dementia, myoclonus, and EEG anomalies, along with neuropathological evidence of neuronal loss, spongiform changes, and astrocytosis. There are three types of CJD: sporadicCJD (sCJD), inherited CJD (see this term), and iatrogenic and variant CJD (vCJD).

SPORADIC CREUTZFELDT-JAKOB DISEASE Is also known as sporadic cjd|creutzfeldt-jakob disease, familial

Related symptoms:

  • Ataxia
  • Cataract
  • Spasticity
  • Visual impairment
  • Peripheral neuropathy


SOURCES: OMIM ORPHANET MENDELIAN

More info about SPORADIC CREUTZFELDT-JAKOB DISEASE

Low match PEROXISOME BIOGENESIS DISORDER 5B; PBD5B


The overlapping phenotypes of neonatal adrenoleukodystrophy (NALD) and infantile Refsum disease (IRD) represent the milder manifestations of the Zellweger syndrome spectrum (ZSS) of peroxisome biogenesis disorders. The clinical course of patients with the NALD and IRD presentation is variable and may include developmental delay, hypotonia, liver dysfunction, sensorineural hearing loss, retinal dystrophy, and visual impairment. Children with the NALD presentation may reach their teens, and those with the IRD presentation may reach adulthood (summary by Waterham and Ebberink, 2012).For a complete phenotypic description and a discussion of genetic heterogeneity of PBD(NALD/IRD), see {601539}.Individuals with mutations in the PEX2 gene have cells of complementation group 5 (CG5, equivalent to CG10 and CGF). For information on the history of PBD complementation groups, see {214100}.

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment
  • Ataxia
  • Nystagmus


SOURCES: OMIM MENDELIAN

More info about PEROXISOME BIOGENESIS DISORDER 5B; PBD5B

Low match SPINAL MUSCULAR ATROPHY-PROGRESSIVE MYOCLONIC EPILEPSY SYNDROME


Spinal muscular atrophy-progressive myoclonic epilepsy syndrome is characterized by hereditary myoclonus and progressive distal muscular atrophy. Less than 10 cases have been reported. Treatment with clonazepam results in complete and lasting improvement of the myoclonus.

SPINAL MUSCULAR ATROPHY-PROGRESSIVE MYOCLONIC EPILEPSY SYNDROME Is also known as hereditary myoclonus-progressive distal muscular atrophy syndrome|jankovic-rivera syndrome|myoclonus, hereditary, with progressive distal muscular atrophy

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Hearing impairment
  • Scoliosis
  • Sensorineural hearing impairment


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about SPINAL MUSCULAR ATROPHY-PROGRESSIVE MYOCLONIC EPILEPSY SYNDROME

Low match PCNA-RELATED PROGRESSIVE NEURODEGENERATIVE PHOTOSENSITIVITY SYNDROME


PCNA-related progressive neurodegenerative photosensitivity syndrome is a rare neurodegenerative disease caused by homozygous mutations in the PCNA gene and characterized by neurodegeneration, postnatal growth retardation, prelingual sensorineural hearing loss, premature aging, ocular and cutaneous telangiectasia, learning difficulties, photophobia, and photosensitivity with evidence of predisposition to sun-induced malignancy. Progressive neurologic deterioration leads to gait disturbances, muscle weakness, speech and swallowing difficulties and progressive cognitive decline.

Related symptoms:

  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Microcephaly
  • Ataxia


SOURCES: OMIM ORPHANET MENDELIAN

More info about PCNA-RELATED PROGRESSIVE NEURODEGENERATIVE PHOTOSENSITIVITY SYNDROME

Low match SPINOCEREBELLAR ATAXIA TYPE 41


Spinocerebellar ataxia type 41 is a rare autosomal dominant cerebellar ataxia type III disorder characterized by adult-onset progressive imbalance and loss of coordination associated with an ataxic gait. Mild atrophy of the cerebellar vermis has been reported on brain magnetic resonance imaging.

SPINOCEREBELLAR ATAXIA TYPE 41 Is also known as sca41

Related symptoms:

  • Ataxia
  • Cerebellar atrophy
  • Gait ataxia
  • Unsteady gait
  • Postural instability


SOURCES: ORPHANET OMIM MENDELIAN

More info about SPINOCEREBELLAR ATAXIA TYPE 41

Low match MITOCHONDRIAL DNA DEPLETION SYNDROME 4B (MNGIE TYPE); MTDPS4B


Mitochondrial DNA depletion syndrome-4B is an autosomal recessive progressive multisystem disorder clinically characterized by chronic gastrointestinal dysmotility and pseudoobstruction, cachexia, progressive external ophthalmoplegia (PEO), axonal sensory ataxic neuropathy, and muscle weakness (van Goethem et al., 2003).For a discussion of genetic heterogeneity of autosomal recessive mtDNA depletion syndromes, see MTDPS1 (OMIM ).

MITOCHONDRIAL DNA DEPLETION SYNDROME 4B (MNGIE TYPE); MTDPS4B Is also known as mngie, polg-related|mitochondrial neurogastrointestinal encephalopathy syndrome, polg-related

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Hearing impairment


SOURCES: OMIM MENDELIAN

More info about MITOCHONDRIAL DNA DEPLETION SYNDROME 4B (MNGIE TYPE); MTDPS4B

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

Symptoms // Phenotype % cases
Ataxia Common - Between 50% and 80% cases
Hearing impairment Uncommon - Between 30% and 50% cases
Muscle weakness Uncommon - Between 30% and 50% cases
Dysarthria Uncommon - Between 30% and 50% cases
Cerebellar atrophy Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Mental deterioration Global developmental delay Pes cavus Dementia Generalized hypotonia Sensorineural hearing impairment Gait ataxia Abnormal cerebellum morphology Pneumonia Falls Tremor Areflexia Peripheral neuropathy Neurodegeneration Seizures

Rare Symptoms - Less than 30% cases


Microcephaly Dysmetria Skeletal muscle atrophy Progressive cerebellar ataxia Behavioral abnormality Immunodeficiency Memory impairment Personality changes Myopathy Anxiety Progressive muscle weakness Proximal muscle weakness Myoclonus Difficulty walking Hyperlordosis Hyperreflexia Visual impairment Spasticity Recurrent infections Gait disturbance Short stature Encephalopathy Decreased liver function Broad-based gait Frequent falls Telangiectasia Cutaneous photosensitivity Elevated levels of phytanic acid Postural instability Cerebellar vermis atrophy Progressive sensorineural hearing impairment Dysphagia Conjunctival telangiectasia Photophobia Atonic seizures Flexion contracture Bilateral sensorineural hearing impairment Babinski sign Recurrent respiratory infections EEG abnormality Facial palsy Respiratory tract infection Scoliosis Neurological speech impairment Generalized myoclonic seizures Generalized-onset seizure Fasciculations Progressive distal muscular atrophy EMG abnormality Respiratory insufficiency due to muscle weakness Spinal muscular atrophy Gowers sign Oral-pharyngeal dysphagia Loss of consciousness Generalized amyotrophy Respiratory insufficiency Tongue fasciculations Degeneration of anterior horn cells Absence seizures Thin upper lip vermilion Intellectual disability External ophthalmoplegia Constipation Abdominal pain Respiratory failure Hypoglycemia Abnormality of the cerebral white matter Ophthalmoplegia Malabsorption Abdominal distention Generalized muscle weakness Hepatic fibrosis Leukoencephalopathy Talipes equinovarus Ragged-red muscle fibers Cachexia Hypokalemia Bilateral talipes equinovarus Malnutrition Celiac disease Mitochondrial myopathy Progressive external ophthalmoplegia Hypomagnesemia Slender build Gastrointestinal dysmotility Ventriculomegaly Low-set ears Hypertelorism Hypermetropia Feeding difficulties Delayed speech and language development Epicanthus Myopia Abnormality of the dentition Long philtrum Hyperactivity Narrow mouth Bronchiolitis Attention deficit hyperactivity disorder Hypodontia Growth delay Asthma Prominent nose Microdontia Hypsarrhythmia Short palpebral fissure Narrow palpebral fissure Oligodontia Eosinophilia Myopathic facies Delayed ability to walk Thin eyebrow Very long chain fatty acid accumulation Normal pressure hydrocephalus Slow saccadic eye movements Hypogonadism Gait imbalance Abnormality of peripheral nerve conduction Poor fine motor coordination Abnormal nerve conduction velocity Abnormality of hand joint mobility Abnormality of the skeletal system Cerebral atrophy Abnormality of metabolism/homeostasis Cerebral cortical atrophy Myositis Aggressive behavior Infertility Parkinsonism Chorea Aspiration Hypogonadotrophic hypogonadism Dysdiadochokinesis Impulsivity Brisk reflexes Absent Achilles reflex Impaired vibration sensation in the lower limbs Loss of speech Lower limb muscle weakness Abnormality of eye movement Elevated serum creatine phosphokinase Dyspnea Arthralgia Abnormality of the nervous system Distal muscle weakness Cough Limb muscle weakness Abnormality of the foot Paresthesia Abnormal joint morphology Peripheral axonal neuropathy Distal amyotrophy Distal sensory impairment Sensory impairment Sensorimotor neuropathy Scapular winging Hammertoe Toe walking Amyotrophic lateral sclerosis Atrophy/Degeneration affecting the brainstem Oligomenorrhea Difficulty running Hirano bodies Visual field defect Muscle fibrillation Increased CSF protein Delusions Visual hallucinations Supranuclear gaze palsy Dysesthesia Loss of facial expression Extrapyramidal muscular rigidity Nystagmus Aphasia Hyporeflexia Rod-cone dystrophy Neonatal hypotonia Joint laxity Retinal dystrophy Polyneuropathy Apraxia Oculomotor apraxia Gaze-evoked nystagmus Blurred vision Apathy Aspiration pneumonia Irritability Inappropriate behavior Chorioretinal dystrophy Cataract Hydrocephalus Blindness Headache Depressivity Reduced visual acuity Rigidity Paralysis Language impairment Abnormal pyramidal sign Confusion Gliosis Neuronal loss in central nervous system Hemiparesis Choreoathetosis Hallucinations Cerebral visual impairment Truncal ataxia Sensory ataxic neuropathy



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