Autoimmunity, and Muscular hypotonia of the trunk

Diseases related with Autoimmunity and Muscular hypotonia of the trunk

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


Top matches:

Low match DIABETES MELLITUS, PERMANENT NEONATAL; PNDM


Neonatal diabetes mellitus (NDM), defined as insulin-requiring hyperglycemia within the first 3 months of life, is a rare entity, with an estimated incidence of 1 in 400,000 neonates (Shield, 2000). In about half of the neonates, diabetes is transient (see {601410}) and resolves at a median age of 3 months, whereas the rest have a permanent insulin-dependent form of diabetes (PNDM). In a significant number of patients with transient neonatal diabetes mellitus, type II diabetes (see {125853}) appears later in life (Arthur et al., 1997). PNDM is distinct from childhood-onset autoimmune diabetes mellitus type I (IDDM ).Massa et al. (2005) noted that the diagnostic time limit for PNDM has changed over the years, ranging from onset within 30 days of birth to 3 months of age. However, as patients with the clinical phenotype caused by mutation in the KCNJ11 gene have been identified with onset up to 6 months of age, Massa et al. (2005) suggested that the term 'permanent diabetes mellitus of infancy' (PDMI) replace PNDM as a more accurate description, and include those who present up to 6 months of age. The authors suggested that the new acronym be linked to the gene product (e.g., GCK-PDMI, KCNJ11-PDMI) to avoid confusion with patients with early-onset, autoimmune type I diabetes.Colombo et al. (2008) proposed that, because individuals with INS gene mutations may present with diabetes well beyond 6 months of age and cannot be distinguished from patients with type 1 diabetes except for the absence of type 1 diabetes autoantibodies, the term PNDM should be replaced with 'monogenic diabetes of infancy (MDI),' a broad definition including any form of diabetes, permanent or transient, with onset during the first years of life and caused by a single gene defect.

DIABETES MELLITUS, PERMANENT NEONATAL; PNDM Is also known as diabetes mellitus, permanent, of infancy|pdmi

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Failure to thrive
  • Muscle weakness


SOURCES: OMIM ORPHANET MENDELIAN

More info about DIABETES MELLITUS, PERMANENT NEONATAL; PNDM

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

Mendelian

Too many results?
We can help you with your rare disease diagnosis.

Learn more

Other less relevant matches:

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 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 SYNDROMIC MULTISYSTEM AUTOIMMUNE DISEASE DUE TO ITCH DEFICIENCY


Syndromic multisystem autoimmune disease due to Itch deficiency is a rare, genetic, systemic autoimmune disease characterized by failure to thrive, global developmental delay, distictive craniofacial dysmorphism (relative macrocephaly, dolichocephaly, frontal bossing, orbital proptosis, flattened midface with a prominent occiput, low, posteriorly rotated ears, micrognatia), hepato- and/or splenomegaly, and multisystemic autoimmune disease involving the lungs, liver, gut and/or thyroid gland.

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Failure to thrive
  • Abnormal facial shape
  • Low-set ears


SOURCES: OMIM ORPHANET MENDELIAN

More info about SYNDROMIC MULTISYSTEM AUTOIMMUNE DISEASE DUE TO ITCH DEFICIENCY

Low match COMBINED IMMUNODEFICIENCY DUE TO STIM1 DEFICIENCY


Combined immunodeficiency (CID) due to STIM1 deficiency is a form of CID due to Calcium release activated Ca2+(CRAC) channel dysfunction (see this term) characterized by recurrent infections, autoimmunity, congenital myopathy and ectodermal dysplasia.

COMBINED IMMUNODEFICIENCY DUE TO STIM1 DEFICIENCY Is also known as cid due to stim1 deficiency|immune dysfunction with t-cell inactivation due to calcium entry defect 2|stim1 deficiency

Related symptoms:

  • Generalized hypotonia
  • Muscular hypotonia
  • Anemia
  • Myopathy
  • Diarrhea


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about COMBINED IMMUNODEFICIENCY DUE TO STIM1 DEFICIENCY

Low match NEONATAL SEVERE PRIMARY HYPERPARATHYROIDISM


Neonatal severe primary hyperparathyroidism (NSHPT) is characterized by severe hypercalcemia (> 3.5 mM) from birth and associated with major hyperparathyroidism.

NEONATAL SEVERE PRIMARY HYPERPARATHYROIDISM Is also known as nhpt|nsph|nshpt|hyperparathyroidism, neonatal severe primary

Related symptoms:

  • Short stature
  • Generalized hypotonia
  • Neoplasm
  • Failure to thrive
  • Muscular hypotonia


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about NEONATAL SEVERE PRIMARY HYPERPARATHYROIDISM

Low match PERMANENT NEONATAL DIABETES MELLITUS


Permanent neonatal diabetes mellitus (PNDM) is a monogenic form of neonatal diabetes (NDM, see this term) characterized by persistent hyperglycemia within the first 12 months of life in general, requiring continuous insulin treatment.

PERMANENT NEONATAL DIABETES MELLITUS Is also known as monogenic diabetes of infancy|pndm

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Hearing impairment
  • Ataxia
  • Failure to thrive


SOURCES: ORPHANET MENDELIAN

More info about PERMANENT NEONATAL DIABETES MELLITUS

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

Top 5 symptoms//phenotypes associated to Autoimmunity and Muscular hypotonia of the trunk

Symptoms // Phenotype % cases
Generalized hypotonia Very Common - Between 80% and 100% cases
Failure to thrive Common - Between 50% and 80% cases
Seizures Uncommon - Between 30% and 50% cases
Global developmental delay Uncommon - Between 30% and 50% cases
Muscular hypotonia Uncommon - Between 30% and 50% cases
Mendelian

Accelerate your rare disease diagnosis with us

Learn more

Other less frequent symptoms

Patients with Autoimmunity and Muscular hypotonia of the trunk. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Ataxia Splenomegaly Pneumonia Hepatitis Hearing impairment Fever Hepatomegaly Feeding difficulties Spasticity Hashimoto thyroiditis Behavioral abnormality Episodic fever Motor delay Peripheral neuropathy Muscle weakness

Rare Symptoms - Less than 30% cases


Irritability Feeding difficulties in infancy Arthrogryposis multiplex congenita Hepatosplenomegaly Rigidity Nystagmus Tetraparesis Recurrent lower respiratory tract infections Thrombocytopenia Recurrent infections Dilatation Immunodeficiency Dysarthria Pure red cell aplasia Tetraplegia Abnormality of the cerebral white matter Brain atrophy Peripheral demyelination Ptosis Intellectual disability Spastic tetraplegia Autoimmune thrombocytopenia Leukodystrophy Asthma Systemic lupus erythematosus Spastic diplegia Diarrhea Spastic tetraparesis Hemolytic anemia Diffuse cerebral atrophy Dysphagia Intrauterine growth retardation Cognitive impairment Prominent metopic ridge Downturned corners of mouth Dehydration Dyspnea Respiratory failure Aspiration Type I diabetes mellitus Recurrent bacterial infections Bilateral ptosis Polydipsia Diabetes mellitus Hyperglycemia Polyuria Vomiting Abnormality of the immune system Anemia Generalized myoclonic seizures Glycosuria Autoimmune antibody positivity Clinodactyly Pancreatic hypoplasia Gait disturbance Tremor Cyanosis Weight loss Autoimmune hemolytic anemia Strabismus Acrocyanosis Ophthalmoplegia Prominent occiput Myopathy Dolichocephaly Relative macrocephaly Malabsorption Abnormal lung morphology Chronic diarrhea Interstitial pneumonitis Short chin Abnormal intestine morphology Chronic lung disease Lymphadenopathy Decreased miniature endplate potentials Camptodactyly Type 2 muscle fiber atrophy Psychosis Diplopia Respiratory insufficiency due to muscle weakness Easy fatigability Poor suck Rheumatoid arthritis Ophthalmoparesis Bulbar palsy Weak cry Hyperthyroidism Fatigable weakness Primary adrenal insufficiency Raynaud phenomenon Myositis EMG: decremental response of compound muscle action potential to repetitive nerve stimulation Hypothyroidism Abnormality of the thymus Hyperacusis 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 Abnormal facial shape Low-set ears Macrocephaly Frontal bossing Posteriorly rotated ears Proptosis Nail dysplasia Hypercalcemia Eczema Abnormal pyramidal sign Peripheral axonal neuropathy Coma Apraxia Neurodevelopmental delay Renal tubular dysfunction Ketonuria Abnormality of the upper urinary tract Microalbuminuria Hypovolemia Neonatal insulin-dependent diabetes mellitus Contractures of the joints of the lower limbs Reduced pancreatic beta cells Delayed speech and language development Babinski sign Lymphoma Retinopathy Otitis media Recurrent urinary tract infections Sinusitis Lymphopenia Recurrent upper respiratory tract infections Recurrent viral infections Impaired T cell function Hypouricemia Autoimmune neutropenia Abnormal T cell morphology Recurrent opportunistic infections Cerebral vasculitis Brain abscess Lymph node hypoplasia Generalized tonic-clonic seizures Abnormal heart morphology Nephrotic syndrome Abnormality of the metaphysis Hypoplasia of dental enamel Hypohidrosis Recurrent pneumonia Abnormality of dental enamel Sarcoma Anhidrosis Hypoplasia of the iris Amelogenesis imperfecta Intermittent diarrhea Short stature Neoplasm Constipation Narrow chest Recurrent fractures Aminoaciduria Intellectual disability, severe Neoplasm of the endocrine system Abnormality of calcium-phosphate metabolism Parathyroid hyperplasia Parathyroid adenoma Primary hyperparathyroidism Hyperphosphaturia Elevated circulating parathyroid hormone level Calcinosis Tachypnea Thyroiditis Hyperparathyroidism Abnormality of the thyroid gland Hypophosphatemia Metaphyseal irregularity Hypercalciuria Generalized muscle weakness Abnormality of the thumb Tapered finger Basal ganglia calcification Severe global developmental delay Cerebral calcification Abnormality of extrapyramidal motor function Intellectual disability, profound Postnatal microcephaly Progressive microcephaly Leukoencephalopathy Cerebral palsy Poor head control Encephalitis Petechiae Congenital glaucoma Prolonged neonatal jaundice Atrophy/Degeneration affecting the brainstem Elevated hepatic transaminase Progressive encephalopathy Morphological abnormality of the pyramidal tract Vegetative state Lymphocytosis CSF pleocytosis Autoamputation Multiple gastric polyps CSF lymphocytic pleiocytosis Chilblains Chronic CSF lymphocytosis Deep white matter hypodensities Increased CSF interferon alpha Sensorineural hearing impairment Skin rash Cerebral cortical atrophy Hyperreflexia Aspiration pneumonia Flexion contracture Anteverted nares Short nose Long philtrum Abnormality of the nervous system Small for gestational age Confusion Hypsarrhythmia Progressive neurologic deterioration Failure to thrive in infancy Radial deviation of finger Abnormality of the ear Ketoacidosis Mild global developmental delay Glaucoma Limb joint contracture Beta-cell dysfunction Transient neonatal diabetes mellitus Thickened ears Elevated hemoglobin A1c Clinodactyly of the 4th finger Microcephaly Abnormality of the skeletal system Cerebellar atrophy Dystonia Cerebral atrophy Encephalopathy Agenesis of corpus callosum Visual impairment Optic atrophy Paresthesia Abnormality of movement Hyperactive deep tendon reflexes Increased CSF protein Motor deterioration Demyelinating peripheral neuropathy Cloverleaf skull Aplasia/Hypoplasia of the abdominal wall musculature CNS demyelination Abnormal nerve conduction velocity Decerebrate rigidity Unexplained fevers Abnormal flash visual evoked potentials Headache Areflexia Dysmetria Progressive spasticity Impaired vibratory sensation Sensory axonal neuropathy ST segment elevation Increased serum pyruvate Positive Romberg sign Limb dysmetria Abnormality of central motor conduction Respiratory distress Polyhydramnios Proximal muscle weakness Apnea Respiratory tract infection Paralysis Ankle clonus Opisthotonus Hydrocephalus Sensory neuropathy Blindness Hypertonia Abnormality of metabolism/homeostasis Visual loss Recurrent respiratory infections Pes cavus Reduced visual acuity EEG abnormality Mental deterioration Developmental regression Pallor Protruding ear Falls Neurodegeneration Global brain atrophy Optic disc pallor Frequent falls Progressive muscle weakness Clonus Sensorimotor neuropathy Horizontal nystagmus EMG abnormality Paraparesis Spastic paraparesis CNS hypomyelination Decreased nerve conduction velocity Hemiplegia Postural tremor Hemiplegia/hemiparesis Abnormality of B cell physiology



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

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more