Autoimmunity, and Rigidity

Diseases related with Autoimmunity and Rigidity

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


Top matches:

Low match MYASTHENIC SYNDROME, CONGENITAL, 6, PRESYNAPTIC; CMS6


Congenital myasthenic syndromes (CMS) are a group of inherited disorders affecting the neuromuscular junction (NMJ). Patients present clinically with onset of variable muscle weakness between infancy and adulthood. These disorders have been classified according to the location of the defect: presynaptic, synaptic, and postsynaptic. CMS6 is an autosomal recessive CMS resulting from a presynaptic defect; patients have onset of symptoms in infancy or early childhood and tend to have sudden apneic episodes. Treatment with acetylcholinesterase inhibitors may be beneficial (summary by Engel et al., 2015).For a discussion of genetic heterogeneity of CMS, see CMS1A (OMIM ).

MYASTHENIC SYNDROME, CONGENITAL, 6, PRESYNAPTIC; CMS6 Is also known as myasthenic syndrome, presynaptic, congenital, associated with episodic apnea|congenital myasthenic syndrome type ia2, formerly|cms ia2, formerly|cms1a2, formerly|cmsea|fimg2, formerly|myasthenia, familial infantile, formerly|myasthenia gravis, familial in

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Hearing impairment
  • Failure to thrive
  • Strabismus


SOURCES: ORPHANET OMIM MENDELIAN

More info about MYASTHENIC SYNDROME, CONGENITAL, 6, PRESYNAPTIC; CMS6

Low match KRABBE DISEASE


Krabbe disease is an autosomal recessive lysosomal disorder affecting the white matter of the central and peripheral nervous systems. Most patients present within the first 6 months of life with 'infantile' or 'classic' disease manifest as extreme irritability, spasticity, and developmental delay (Wenger et al., 2000). There is severe motor and mental deterioration, leading to decerebration and death by age 2 years. Approximately 10 to 15% of patients have a later onset, commonly differentiated as late-infantile (6 months to 3 years), juvenile (3 to 8 years), and even adult-onset forms. The later-onset forms have less disease severity and slower progression. These later-onset patients can be clinically normal until weakness, vision loss and intellectual regression become evident; those with adult onset may have spastic paraparesis as the only symptom. Disease severity is variable, even within families (summary by Tappino et al., 2010).

KRABBE DISEASE Is also known as gcl|galc deficiency|galactosylceramide beta-galactosidase deficiency|globoid cell leukodystrophy|galactocerebrosidase deficiency|globoid cell leukoencephalopathy|gld

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about KRABBE DISEASE

Low match AUTOIMMUNE POLYENDOCRINOPATHY TYPE 1


Autoimmune polyendocrinopathy type 1, or APECED syndrome, is a genetic disease that manifests in childhood or early adolescence with a combination of chronic mucocutaneous candidiasis, hypoparathyroidism and autoimmune adrenal failure.

AUTOIMMUNE POLYENDOCRINOPATHY TYPE 1 Is also known as autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy|apeced|autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome|autoimmune hypoparathyroidism-chronic candidiasis-addison disease syndrome|apeced syndrome|polyglandular autoimmu

Related symptoms:

  • Seizures
  • Abnormal facial shape
  • Cataract
  • Anemia
  • Visual impairment


SOURCES: OMIM ORPHANET MENDELIAN

More info about AUTOIMMUNE POLYENDOCRINOPATHY TYPE 1

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Other less relevant matches:

Low match X-LINKED SPASTICITY-INTELLECTUAL DISABILITY-EPILEPSY SYNDROME


This syndrome is characterised by myoclonic epilepsy with generalised spasticity and intellectual deficit. It has been described in six males from two generations of one family. Transmission appears to be X-linked recessive and the syndrome is caused by mutations in the aristaless-related homeobox gene (ARX, Xp22.13).

Related symptoms:

  • Intellectual disability
  • Spasticity
  • Hypertonia
  • Rigidity
  • Status epilepticus


SOURCES: ORPHANET MENDELIAN

More info about X-LINKED SPASTICITY-INTELLECTUAL DISABILITY-EPILEPSY SYNDROME

Low match ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED (HERPES-SPECIFIC), SUSCEPTIBILITY TO, 7; IIAE7


ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED (HERPES-SPECIFIC), SUSCEPTIBILITY TO, 7; IIAE7 Is also known as herpes simplex encephalitis, susceptibility to, 5

Related symptoms:

  • Seizures
  • Fever
  • Headache
  • Rigidity
  • Confusion


SOURCES: OMIM MENDELIAN

More info about ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED (HERPES-SPECIFIC), SUSCEPTIBILITY TO, 7; IIAE7

Low match WOOLLY HAIR, AUTOSOMAL RECESSIVE 3; ARWH3


WOOLLY HAIR, AUTOSOMAL RECESSIVE 3; ARWH3 Is also known as woolly hair, autosomal recessive 3, with hypotrichosis

Related symptoms:

  • Intellectual disability
  • Diarrhea
  • Immunodeficiency
  • Hyperhidrosis
  • Rigidity


SOURCES: OMIM MENDELIAN

More info about WOOLLY HAIR, AUTOSOMAL RECESSIVE 3; ARWH3

Low match X-LINKED DYSTONIA-PARKINSONISM


X-linked dystonia-parkinsonism (XDP) is a neurodegenerative movement disorder characterized by adult-onset parkinsonism that is frequently accompanied by focal dystonia, which becomes generalized over time, and that has a highly variable clinical course.

X-LINKED DYSTONIA-PARKINSONISM Is also known as lubag|lubag syndrome|torsion dystonia-parkinsonism, filipino type|xdp|dyt3|dystonia-parkinsonism, x-linked

Related symptoms:

  • Hearing impairment
  • Tremor
  • Dystonia
  • Myoclonus
  • Difficulty walking


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about X-LINKED DYSTONIA-PARKINSONISM

Low match DEMENTIA, LEWY BODY; DLB


Dementia with Lewy bodies (DLB) is a neurodegenerative disorder clinically characterized by dementia and parkinsonism, often with fluctuating cognitive function, visual hallucinations, falls, syncopal episodes, and sensitivity to neuroleptic medication. Pathologically, Lewy bodies are present in a pattern more widespread than usually observed in Parkinson disease (see PD; {168600}). Alzheimer disease (AD )-associated pathology and spongiform changes may also be seen (McKeith et al., 1996; Mizutani, 2000; McKeith et al., 2005).

DEMENTIA, LEWY BODY; DLB Is also known as lewy body dementia|diffuse lewy body disease

Related symptoms:

  • Cognitive impairment
  • Dysarthria
  • Depressivity
  • Pneumonia
  • Dementia


SOURCES: ORPHANET OMIM MENDELIAN

More info about DEMENTIA, LEWY BODY; DLB

Low match PAROXYSMAL NON-KINESIGENIC DYSKINESIA


Paroxysmal non-kinesigenic dyskinesia (PNKD) is a form of paroxysmal dyskinesia (see this term), characterized by attacks of dystonic or choreathetotic movements precipitated by stress, fatigue, coffee or alcohol intake or menstruation.

PAROXYSMAL NON-KINESIGENIC DYSKINESIA Is also known as paroxysmal dystonic choreoathetosis|choreoathetosis, nonkinesigenic|pdc|dystonia 8|paroxystic non-kinesigenic choreoathetosis|dyt8|choreoathetosis, familial paroxysmal|mount-reback syndrome|fpd1

Related symptoms:

  • Seizures
  • Ataxia
  • Spasticity
  • Dysarthria
  • Fatigue


SOURCES: OMIM ORPHANET MENDELIAN

More info about PAROXYSMAL NON-KINESIGENIC DYSKINESIA

Low match AICARDI-GOUTIERES SYNDROME 6; AGS6


Related symptoms:

  • Global developmental delay
  • Microcephaly
  • Nystagmus
  • Spasticity
  • Tremor


SOURCES: OMIM MENDELIAN

More info about AICARDI-GOUTIERES SYNDROME 6; AGS6

Top 5 symptoms//phenotypes associated to Autoimmunity and Rigidity

Symptoms // Phenotype % cases
Seizures Uncommon - Between 30% and 50% cases
Spasticity Uncommon - Between 30% and 50% cases
Dysarthria Uncommon - Between 30% and 50% cases
Dystonia Uncommon - Between 30% and 50% cases
Tremor Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Fever Falls Hearing impairment Frequent falls

Rare Symptoms - Less than 30% cases


Muscle stiffness Intellectual disability Global developmental delay Diarrhea Ataxia Nystagmus Primary adrenal insufficiency Headache Confusion Cognitive impairment Visual impairment Encephalitis Dyskinesia Hemiplegia Ankle clonus Pallor Abnormality of movement Clonus Parkinsonism Chorea Bradykinesia Leukodystrophy Developmental regression Vomiting Mental deterioration Paraparesis Spastic paraparesis Reduced visual acuity Paraplegia Hypertonia Spastic paraplegia Myoclonus Hemolytic anemia Dyspnea Generalized muscle weakness Hepatitis Hypotrichosis Skin rash Generalized hypotonia Chronic diarrhea Cerebral calcification Ophthalmoplegia Failure to thrive Dysphagia Muscle weakness Feeding difficulties Sparse scalp hair Vitiligo Sparse hair Palmoplantar keratoderma Fine hair Constriction of peripheral visual field Trichorrhexis nodosa Sparse eyelashes Abnormality of the thyroid gland Curly hair Thyroiditis Hyperhidrosis Metaphyseal dysplasia Macular atrophy Adrenal insufficiency Woolly hair Diabetes insipidus Alopecia universalis Immunodeficiency Salt craving Alopecia totalis Central diabetes insipidus Tetany Gastritis Keratoconjunctivitis Alopecia areata Chronic hepatitis Achalasia Abnormality of calcium-phosphate metabolism Chronic atrophic gastritis Chronic active hepatitis Decreased circulating parathyroid hormone level Hypoparathyroidism Patchy atrophy of the retinal pigment epithelium Abnormality of the cerebral vasculature Status epilepticus Chronic mucocutaneous candidiasis Asplenia Antinuclear antibody positivity Adrenal hyperplasia Chronic sinusitis Increased circulating cortisol level Nuchal rigidity Decreased circulating aldosterone level Female hypogonadism Shuffling gait Difficulty walking Paroxysmal dystonia Fatigue Joint stiffness Neurological speech impairment Migraine Choreoathetosis Involuntary movements Torticollis Hyperkinesis Trismus Episodic ataxia Myokymia Facial grimacing Paroxysmal dyskinesia Kernicterus Vertical supranuclear gaze palsy Paroxysmal choreoathetosis Staring gaze Microcephaly Babinski sign Abnormality of the nervous system Progressive neurologic deterioration Lower limb spasticity Toe walking Freckling Progressive spastic paraplegia Loss of speech Generalized dystonia Moderate global developmental delay Loss of ability to walk Fluctuations in consciousness Senile plaques Postural instability Depressivity Resting tremor Limb dystonia Protruding tongue Hand tremor Aspiration pneumonia Blepharospasm Hypopigmented skin patches Focal dystonia Torsion dystonia Parkinsonism with favorable response to dopaminergic medication Laryngeal stridor Progressive extrapyramidal muscular rigidity Impaired oropharyngeal swallow response Pneumonia Supranuclear gaze palsy Dementia Abnormal pyramidal sign Gliosis Syncope Memory impairment Neuronal loss in central nervous system Apraxia Hallucinations Alzheimer disease Loss of consciousness Neurofibrillary tangles Delusions Lewy bodies Visual hallucinations Cholelithiasis Abnormality of the liver Opacification of the corneal stroma Sensorineural hearing impairment Type 2 muscle fiber atrophy EMG: decremental response of compound muscle action potential to repetitive nerve stimulation Abnormality of the thymus Pure red cell aplasia Hyperacusis Decreased miniature endplate potentials Sudden episodic apnea Apneic episodes precipitated by illness, fatigue, stress Acetylcholine receptor antibody positivity Generalized hypotonia due to defect at the neuromuscular junction Muscle specific kinase antibody positivity Single fiber EMG abnormality Muscular hypotonia Raynaud phenomenon Peripheral neuropathy Hyperreflexia Optic atrophy Gait disturbance Hydrocephalus Blindness Behavioral abnormality Dilatation Abnormality of metabolism/homeostasis Visual loss Recurrent respiratory infections Pes cavus Weight loss Myositis Acrocyanosis Muscular hypotonia of the trunk Psychosis Strabismus Ptosis Respiratory distress Respiratory failure Polyhydramnios Proximal muscle weakness Apnea Respiratory tract infection Paralysis Arthrogryposis multiplex congenita Paresthesia Tapered finger Cyanosis Diplopia Hashimoto thyroiditis Aspiration Respiratory insufficiency due to muscle weakness Easy fatigability Systemic lupus erythematosus Poor suck Rheumatoid arthritis Ophthalmoparesis Bulbar palsy Glycosuria Abnormality of the immune system Weak cry Hyperthyroidism Fatigable weakness EEG abnormality Irritability Abnormality of the fingernails Retinopathy Decerebrate rigidity Unexplained fevers Abnormal flash visual evoked potentials Abnormal facial shape Cataract Anemia Constipation Alopecia Rod-cone dystrophy Hypogonadism Diabetes mellitus Hypothyroidism Photophobia Malabsorption CNS demyelination Nausea and vomiting Nausea Muscle cramps Decreased antibody level in blood Otitis media Hypotension Pigmentary retinopathy Dehydration Hypoplasia of dental enamel Sinusitis Hypergonadotropic hypogonadism Hypocalcemia Type I diabetes mellitus Abnormal nerve conduction velocity Aplasia/Hypoplasia of the abdominal wall musculature Protruding ear CNS hypomyelination Abnormality of the cerebral white matter Sensory neuropathy Neurodegeneration Generalized myoclonic seizures Brain atrophy Peripheral demyelination Optic disc pallor Tetraparesis Progressive muscle weakness Sensorimotor neuropathy Horizontal nystagmus EMG abnormality Spastic tetraparesis Decreased nerve conduction velocity Cloverleaf skull Postural tremor Hemiplegia/hemiparesis Global brain atrophy Opisthotonus Progressive spasticity Hyperactive deep tendon reflexes Episodic fever Autoimmune thrombocytopenia Increased CSF protein Diffuse cerebral atrophy Motor deterioration Abnormality of the thumb Demyelinating peripheral neuropathy Limb tremor



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