Autoimmunity, and Hypertonia

Diseases related with Autoimmunity and Hypertonia

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


Top matches:

Low match MULTIPLE SCLEROSIS, SUSCEPTIBILITY TO; MS


MULTIPLE SCLEROSIS, SUSCEPTIBILITY TO; MS Is also known as disseminated sclerosis

Related symptoms:

  • Seizures
  • Hearing impairment
  • Nystagmus
  • Neoplasm
  • Muscle weakness


SOURCES: OMIM MENDELIAN

More info about MULTIPLE SCLEROSIS, SUSCEPTIBILITY TO; MS

Low match BENIGN FAMILIAL NEONATAL EPILEPSY


Benign familial neonatal epilepsy (BFNE) is a rare genetic epilepsy syndrome characterized by the occurrence of afebrile seizures in otherwise healthy newborns with onset in the first few days of life.

BENIGN FAMILIAL NEONATAL EPILEPSY Is also known as bfns|benign familial neonatal convulsions|benign familial neonatal seizures

Related symptoms:

  • Seizures
  • Cognitive impairment
  • Hypertonia


SOURCES: ORPHANET MENDELIAN

More info about BENIGN FAMILIAL NEONATAL EPILEPSY

Low match IMMUNODEFICIENCY, COMMON VARIABLE, 10; CVID10


Common variable immunodeficiency-10 is an autosomal dominant primary immunodeficiency characterized by childhood-onset of recurrent infections, hypogammaglobulinemia, and decreased numbers of memory and marginal zone B cells. Some patients may develop autoimmune features and have circulating autoantibodies. An unusual feature is central adrenal insufficiency (summary by Chen et al., 2013).For a general description and a discussion of genetic heterogeneity of common variable immunodeficiency, see CVID1 (OMIM ).

IMMUNODEFICIENCY, COMMON VARIABLE, 10; CVID10 Is also known as deficit in anterior pituitary function and variable immunodeficiency|david|immunodeficiency, common variable, with central adrenal insufficiency

Related symptoms:

  • Global developmental delay
  • Spasticity
  • Gait disturbance
  • Dysphagia
  • Immunodeficiency


SOURCES: OMIM MENDELIAN

More info about IMMUNODEFICIENCY, COMMON VARIABLE, 10; CVID10

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Other less relevant matches:

Low match PURINE NUCLEOSIDE PHOSPHORYLASE DEFICIENCY


Purine nucleoside phosphorylase (PNP) deficiency is a disorder of purine metabolism characterized by progressive immunodeficiency leading to recurrent and opportunistic infections, autoimmunity and malignancy as well as neurologic manifestations.

PURINE NUCLEOSIDE PHOSPHORYLASE DEFICIENCY Is also known as pnp deficiency|pnpase deficiency|nucleoside phosphorylase deficiency

Related symptoms:

  • Intellectual disability
  • Generalized hypotonia
  • Ataxia
  • Failure to thrive
  • Muscular hypotonia


SOURCES: ORPHANET OMIM MENDELIAN

More info about PURINE NUCLEOSIDE PHOSPHORYLASE DEFICIENCY

Low match AICARDI-GOUTIERES SYNDROME 1; AGS1


Aicardi-Goutieres syndrome is a genetically heterogeneous encephalopathy characterized in its most severe form by cerebral atrophy, leukodystrophy, intracranial calcifications, chronic cerebrospinal fluid (CSF) lymphocytosis, increased CSF alpha-interferon (IFNA1 ), and negative serologic investigations for common prenatal infections (Ali et al., 2006). AGS is phenotypically similar to in utero viral infection. Severe neurologic dysfunction becomes clinically apparent in infancy, and manifests as progressive microcephaly, spasticity, dystonic posturing, profound psychomotor retardation, and often death in early childhood. Outside the nervous system, thrombocytopenia, hepatosplenomegaly, and elevated hepatic transaminases along with intermittent fever may also erroneously suggest an infective process (Crow et al., 2006).In a review of AGS, Stephenson (2008) noted that an expanded phenotypic spectrum has been recognized and that most of the original criteria for diagnosis no longer apply: affected individuals may show later onset and may not have severe or progressive neurologic dysfunction, calcification of the basal ganglia, or CSF lymphocytosis. The appearance of chilblains is an important clinical sign for correct diagnosis. The most severe neonatal form of AGS is typically due to mutation in the TREX1 gene.Cree encephalitis was originally considered a separate disorder, but genetic evidence has shown that it is the same as AGS1. See also pseudo-TORCH syndrome (OMIM ), which shows phenotypic overlap and may in some cases represent AGS (Crow et al., 2000; Crow et al., 2003). AGS is distinct from the similarly named Aicardi syndrome (OMIM ), which is characterized by agenesis of the corpus callosum, spinal skeletal abnormalities, and chorioretinal abnormalities. Genetic Heterogeneity of Aicardi-Goutieres SyndromeSee also AGS2 (OMIM ), caused by mutation in the gene encoding subunit B of ribonuclease H2 (RNASEH2B ) on chromosome 13q; AGS3 (OMIM ), caused by mutation in the RNASEH2C gene (OMIM ) on chromosome 11q13.2; AGS4 (OMIM ), caused by mutation in the RNASEH2A gene (OMIM ) on chromosome 19p13.13; AGS5 (OMIM ), caused by mutation in the SAMHD1 gene (OMIM ) on chromosome 20; AGS6 (OMIM ), caused by mutation in the ADAR1 gene (OMIM ) on chromosome 1q21; and AGS7 (OMIM ), caused by mutation in the IFIH1 gene (OMIM ) on chromosome 2q24.

AICARDI-GOUTIERES SYNDROME 1; AGS1 Is also known as cree encephalitis|encephalopathy, familial infantile, with intracranial calcification and chronic cerebrospinal fluid lymphocytosis|ags|pseudotoxoplasmosis syndrome

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Nystagmus


SOURCES: OMIM MENDELIAN

More info about AICARDI-GOUTIERES SYNDROME 1; AGS1

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 RECESSIVE MITOCHONDRIAL ATAXIA SYNDROME


Recessive mitochondrial ataxia syndrome is a rare, mitochondrial DNA maintenance syndrome characterized by early-onset cerebellar ataxia, and variable combination of epilepsy, headache, dysarthria, ophthalmoplegia, peripheral neuropathy, intellectual disability, psychiatric symptoms and movement disorders.

RECESSIVE MITOCHONDRIAL ATAXIA SYNDROME Is also known as miras

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Ataxia
  • Cognitive impairment
  • Peripheral neuropathy


SOURCES: ORPHANET MENDELIAN

More info about RECESSIVE MITOCHONDRIAL ATAXIA SYNDROME

Low match SPONDYLOENCHONDRODYSPLASIA WITH IMMUNE DYSREGULATION; SPENCDI


Spondyloenchondrodysplasia with immune dysregulation (SPENCDI) is an immunoosseous dysplasia combining the typical metaphyseal and vertebral bone lesions of spondyloenchondrodysplasia (SPENCD) with immune dysfunction and neurologic involvement. The skeletal dysplasia is characterized by radiolucent and irregular spondylar and metaphyseal lesions that represent islands of chondroid tissue within bone. The vertebral bodies show dorsally accentuated platyspondyly with disturbance of ossification. Clinical abnormalities such as short stature, rhizomelic micromelia, increased lumbar lordosis, barrel chest, facial anomalies, and clumsy movements may be present (Menger et al., 1989). Central nervous system involvement includes spasticity, mental retardation, and cerebral calcifications, and immune dysregulation ranges from autoimmunity to immunodeficiency. Neurologic and autoimmune manifestations have been observed in different combinations within a single family, suggesting that this disorder may be defined by specific radiographic features but has remarkably pleiotropic manifestations (Renella et al., 2006). Briggs et al. (2016) also noted variability in skeletal, neurologic, and immune phenotypes, which was sometimes marked between members of the same family. Classification of the EnchondromatosesIn their classification of the enchondromatoses, Spranger et al. (1978) called Ollier disease and Maffucci syndrome types I and II enchondromatosis, respectively; metachondromatosis (OMIM ), type III; and spondyloenchondrodysplasia (SPENCD), also called spondyloenchondromatosis, type IV; enchondromatosis with irregular vertebral lesions, type V; and generalized enchondromatosis, type VI. Halal and Azouz (1991) added 3 tentative categories to the 6 in the classification of Spranger et al. (1978).Pansuriya et al. (2010) suggested a new classification of enchondromatosis (multiple enchondromas).

SPONDYLOENCHONDRODYSPLASIA WITH IMMUNE DYSREGULATION; SPENCDI Is also known as spencd|combined immunodeficiency with autoimmunity and spondylometaphyseal dysplasia|roifman immunoskeletal syndrome

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Spasticity
  • Low-set ears


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about SPONDYLOENCHONDRODYSPLASIA WITH IMMUNE DYSREGULATION; SPENCDI

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 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

Top 5 symptoms//phenotypes associated to Autoimmunity and Hypertonia

Symptoms // Phenotype % cases
Spasticity Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Generalized hypotonia Uncommon - Between 30% and 50% cases
Tetraplegia Uncommon - Between 30% and 50% cases
Dysphagia Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Autoimmune thrombocytopenia Ataxia Global developmental delay Fever Gait disturbance Hepatitis Immunodeficiency Recurrent infections Recurrent respiratory infections Dysarthria Ophthalmoplegia Spastic tetraplegia Spastic diplegia Feeding difficulties Hearing impairment Systemic lupus erythematosus Cognitive impairment Failure to thrive Behavioral abnormality Pneumonia Peripheral neuropathy Abnormality of the cerebral white matter Nystagmus Muscle weakness Tremor

Rare Symptoms - Less than 30% cases


Intellectual disability CNS demyelination Brain atrophy Encephalitis Visual loss Muscular hypotonia Strabismus Splenomegaly Headache Tetraparesis Hyperreflexia Respiratory tract infection Basal ganglia calcification Respiratory failure Recurrent bacterial infections Spastic tetraparesis Visual impairment Autoimmune hemolytic anemia Ptosis Episodic fever Diffuse cerebral atrophy Pure red cell aplasia Abnormality of the skeletal system Paresthesia Leukodystrophy Peripheral demyelination Cerebral calcification Irritability Muscular hypotonia of the trunk Rheumatoid arthritis Diplopia Rigidity Areflexia Hemolytic anemia Acrocyanosis Purpura Thrombocytopenia Hashimoto thyroiditis Vitiligo Dilatation Bulbar palsy Sinusitis Ophthalmoparesis Micromelia Hemiplegia/hemiparesis Skeletal dysplasia Hyperlordosis Recurrent otitis media Lumbar hyperlordosis Global brain atrophy Arthralgia Platyspondyly Arthritis Lymphadenopathy Unexplained fevers Kyphoscoliosis Increased CSF protein Decerebrate rigidity Abnormal nerve conduction velocity Aplasia/Hypoplasia of the abdominal wall musculature Cloverleaf skull Demyelinating peripheral neuropathy Abnormal flash visual evoked potentials Abnormality of the thumb Motor deterioration Abnormality of movement Dysmetria Impaired vibratory sensation Sensory axonal neuropathy ST segment elevation Hypothyroidism Increased serum pyruvate Positive Romberg sign Hyperactive deep tendon reflexes Ankle clonus Progressive spasticity Limb dysmetria Abnormality of central motor conduction Opisthotonus Short stature Low-set ears Anemia Intellectual disability, mild Severe short stature Diarrhea Tubulointerstitial fibrosis Abnormal lung morphology Type 2 muscle fiber atrophy Aspiration Respiratory insufficiency due to muscle weakness Easy fatigability Poor suck Glycosuria Abnormality of the immune system Weak cry Hyperthyroidism Fatigable weakness Primary adrenal insufficiency Raynaud phenomenon Myositis EMG: decremental response of compound muscle action potential to repetitive nerve stimulation Cyanosis Abnormality of the thymus 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 Limb muscle weakness Polyneuropathy Sensory impairment Esotropia Psychosis Generalized muscle weakness Rhizomelia Cellular immunodeficiency Nephritis Metaphyseal irregularity Combined immunodeficiency Restrictive ventilatory defect Hypermelanotic macule Scleroderma Recurrent sinusitis Irregular vertebral endplates Narrow nose Barrel-shaped chest Juvenile rheumatoid arthritis Immune dysregulation Spondylometaphyseal dysplasia Hemiplegia Tapered finger Decrease in T cell count Madelung deformity Progressive spastic quadriplegia Metaphyseal sclerosis Arthralgia/arthritis Hypopigmented skin patches on arms Respiratory distress Dyspnea Polyhydramnios Proximal muscle weakness Apnea Paralysis Arthrogryposis multiplex congenita Postural tremor Deep white matter hypodensities Decreased nerve conduction velocity Recurrent lower respiratory tract infections Central adrenal insufficiency Trachyonychia Delayed speech and language development Motor delay Babinski sign Abnormal pyramidal sign Lymphoma Otitis media Recurrent urinary tract infections Lymphopenia Recurrent upper respiratory tract infections Recurrent viral infections Adrenocorticotropic hormone deficiency Impaired T cell function Hypouricemia Autoimmune neutropenia Abnormal T cell morphology Recurrent opportunistic infections Cerebral vasculitis Brain abscess Lymph node hypoplasia Abnormality of B cell physiology Microcephaly Hepatomegaly Cerebellar atrophy Alopecia areata Alopecia totalis Cerebral atrophy Emotional lability Neoplasm Pain Depressivity Constipation Difficulty walking Scarring Confusion Urinary incontinence Memory impairment Muscle stiffness Hyperkinesis Incoordination Brain neoplasm Chronic sinusitis Urinary hesitancy Alopecia Hypoglycemia Nail dystrophy Asthma Decreased antibody level in blood Growth hormone deficiency Inflammatory abnormality of the skin Bronchiectasis Meningitis Psoriasiform dermatitis Adrenal insufficiency Dystonia Encephalopathy CNS hypomyelination Protruding ear Optic atrophy Hydrocephalus Blindness Vomiting Abnormality of metabolism/homeostasis Pes cavus Weight loss Reduced visual acuity EEG abnormality Mental deterioration Developmental regression Pallor Falls Increased CSF interferon alpha Sensory neuropathy Neurodegeneration Generalized myoclonic seizures Optic disc pallor Frequent falls Progressive muscle weakness Clonus Sensorimotor neuropathy Horizontal nystagmus EMG abnormality Paraparesis Spastic paraparesis Sensorineural hearing impairment Chronic CSF lymphocytosis Agenesis of corpus callosum Cerebral palsy Glaucoma Cerebral cortical atrophy Hepatosplenomegaly Elevated hepatic transaminase Feeding difficulties in infancy Skin rash Severe global developmental delay Abnormality of extrapyramidal motor function Intellectual disability, profound Postnatal microcephaly Progressive microcephaly Leukoencephalopathy Poor head control Chilblains Petechiae Congenital glaucoma Prolonged neonatal jaundice Atrophy/Degeneration affecting the brainstem Progressive encephalopathy Morphological abnormality of the pyramidal tract Vegetative state Lymphocytosis CSF pleocytosis Autoamputation Multiple gastric polyps CSF lymphocytic pleiocytosis Acute demyelinating polyneuropathy



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Arthritis and Sensory neuropathy, related diseases and genetic alterations

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