Muscular hypotonia, and Asthma

Diseases related with Muscular hypotonia and Asthma

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

Top matches:

Brain-lung-thyroid syndrome is a rare disorder characterized by congenital hypothyroidism (CH), infant respiratory distress syndrome (IRDS) and benign hereditary chorea (BHC; see these terms).

BRAIN-LUNG-THYROID SYNDROME Is also known as choreoathetosis-hypothyroidism-neonatal respiratory distress syndrome|brain-lung-thyroid syndrome

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Ataxia
  • Muscular hypotonia
  • Motor delay


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about BRAIN-LUNG-THYROID SYNDROME

Isobutyryl-CoA dehydrogenase deficiency is an inborn error of valine metabolism. The prevalence is unknown. Only one symptomatic patient (with anaemia, failure to thrive, dilated cardiomyopathy and plasma carnitine deficiency) has been described so far, but several series of patients have been identified through newborn screening programs relying on detection of increased C(4)-carnitine levels by tandem mass spectrometry. The disorder is caused by mutations in the ACAD8 gene (11q25).

ISOBUTYRYL-COA DEHYDROGENASE DEFICIENCY Is also known as ibd deficiency|acad8 deficiency|acyl-coa dehydrogenase family, member 8, deficiency of|isobutyric aciduria

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Failure to thrive
  • Muscular hypotonia


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about ISOBUTYRYL-COA DEHYDROGENASE 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

Other less relevant matches:

ISQMR is a severe autosomal recessive disorder characterized by ichthyosis apparent from birth, profound psychomotor retardation with essentially no development, spastic quadriplegia, and seizures (summary by Aldahmesh et al., 2011).

CONGENITAL ICHTHYOSIS-INTELLECTUAL DISABILITY-SPASTIC QUADRIPLEGIA SYNDROME Is also known as congenital ichthyosis-intellectual disability-spastic tetraplegia syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly


SOURCES: ORPHANET OMIM MENDELIAN

More info about CONGENITAL ICHTHYOSIS-INTELLECTUAL DISABILITY-SPASTIC QUADRIPLEGIA SYNDROME

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

Stüve-Wiedemann syndrome (SWS) is a rare autosomal recessive congenital primary skeletal dysplasia, characterized by small stature, bowing of the long bones, camptodactyly, hyperthermic episodes, respiratory distress/apneic episodes and feeding difficulties that usually lead to early mortality.

STÜVE-WIEDEMANN SYNDROME Is also known as neonatal schwartz-jampel syndrome|stÜve-wiedemann dysplasia|sjs2|schwartz-jampel syndrome type 2

Related symptoms:

  • Short stature
  • Scoliosis
  • Muscular hypotonia
  • Flexion contracture
  • Intrauterine growth retardation


SOURCES: ORPHANET MENDELIAN

More info about STÜVE-WIEDEMANN SYNDROME

Medium match PGM3-CDG

PGM3-CDG is a rare congenital disorder of glycosylation caused by mutations in the PGM3 gene and characterized by neonatal to childhood onset of recurrent bacterial and viral infections, inflammatory skin diseases, atopic dermatitis and atopic diatheses, and marked serum IgE elevation. Early neurologic impairment is evident including developmental delay, intellectual disability, ataxia, dysarthria, sensorineural hearing loss, myoclonus and seizures.

PGM3-CDG Is also known as cid due to pgm3 deficiency|immunodeficiency with hyper ige and cognitive impairment|pgm3-related congenital disorder of glycosylation|combined immunodeficiency due to pgm3 deficiency|immunodeficiency-vasculitis-myoclonus syndrome|ivms

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia


SOURCES: OMIM ORPHANET MENDELIAN

More info about PGM3-CDG

Cranioectodermal dysplasia (CED), also known as Sensenbrenner syndrome, is a rare autosomal recessive heterogeneous ciliopathy that is primarily characterized by skeletal abnormalities, including craniosynostosis, narrow rib cage, short limbs, and brachydactyly, and ectodermal defects. Nephronophthisis leading to progressive renal failure, hepatic fibrosis, heart defects, and retinitis pigmentosa have also been described (summary by Arts et al., 2011).For a discussion of genetic heterogeneity of cranioectodermal dysplasia, see CED1 (OMIM ).

Related symptoms:

  • Short stature
  • Generalized hypotonia
  • Hypertension
  • Brachydactyly
  • Frontal bossing


SOURCES: OMIM MENDELIAN

More info about CRANIOECTODERMAL DYSPLASIA 4; CED4

The Ehlers-Danlos syndromes (EDS) are a group of heritable connective tissue disorders that share the common features of skin hyperextensibility, articular hypermobility, and tissue fragility. The main features of classic Ehlers-Danlos syndrome are loose-jointedness and fragile, bruisable skin that heals with peculiar 'cigarette-paper' scars (Beighton, 1993). Genetic Heterogeneity of Classic Ehlers-Danlos SyndromeSee EDSCL2 (OMIM ), caused by mutation in the COL5A2 gene (OMIM ) on chromosome 2q32. Classification of Ehlers-Danlos SyndromeThe current OMIM classification of Ehlers-Danlos syndromes is based on a 2017 international classification described by Malfait et al. (2017), which recognizes 13 EDS subtypes: classic, classic-like ({606408}, {618000}), cardiac-valvular (OMIM ), vascular (OMIM ), hypermobile (OMIM ), arthrochalasia ({130060}, {617821}), dermatosparaxis (OMIM ), kyphoscoliotic ({225400}, {614557}), spondylodysplastic ({130070}, {615349}), musculocontractural ({601776}, {615539}), myopathic (OMIM ), periodontal ({130080}, {617174}), and brittle cornea syndrome ({229200}, {614170}). This classification is a revision of the 'Villefranche classification' reported by Beighton et al. (1998), which was widely used in the literature and in OMIM. For a description of the Villefranche classification, see HISTORY.In an early classification of EDS, the designations EDS I and EDS II were used for severe and mild forms of classic EDS, respectively. EDS I was characterized by marked skin involvement and generalized, gross joint laxity, with musculoskeletal deformity and diverse orthopedic complications. Prematurity occurred in approximately 50% of cases. Internal complications such as aortic and bowel rupture were occasionally present. EDS II had all the stigmata of EDS I, but to a minor degree (summary by Steinmann et al., 2002). Both were considered to be forms of classic EDS.

EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 1; EDSCL1 Is also known as ehlers-danlos syndrome, gravis type, formerly|eds i, formerly|eds1, formerly|ehlers-danlos syndrome, type i, formerly|ehlers-danlos syndrome, severe classic type, formerly

Related symptoms:

  • Short stature
  • Generalized hypotonia
  • Motor delay
  • Hypertension
  • Epicanthus


SOURCES: OMIM MESH MENDELIAN

More info about EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 1; EDSCL1

Top 5 symptoms//phenotypes associated to Muscular hypotonia and Asthma

Symptoms // Phenotype % cases
Generalized hypotonia Very Common - Between 80% and 100% cases
Global developmental delay Common - Between 50% and 80% cases
Short stature Uncommon - Between 30% and 50% cases
Seizures Uncommon - Between 30% and 50% cases
Intellectual disability Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Hypothyroidism Recurrent infections Failure to thrive Anemia Myopia Abnormality of the dentition Immunodeficiency Pneumonia Recurrent pneumonia

Rare Symptoms - Less than 30% cases

Abnormal facial shape Hypertension Abnormality of the skeletal system Brachydactyly Joint hypermobility Delayed speech and language development Feeding difficulties Epicanthus Inflammatory abnormality of the skin Frontal bossing Diarrhea Episodic fever Autoimmunity Erythema Eczema Hemolytic anemia Microcephaly Flexion contracture Hernia Inguinal hernia Hypohidrosis Hypermetropia Narrow palpebral fissure Abnormal lung morphology Ataxia Motor delay Dysarthria Respiratory distress Atrial septal defect Recurrent respiratory infections Respiratory failure Respiratory tract infection Apnea Scoliosis Infantile muscular hypotonia Narrow chest Cortical myoclonus Membranoproliferative glomerulonephritis High palate Cognitive impairment Abnormality of vision Vasculitis in the skin Autoimmune neutropenia Decreased corneal reflex Flexion contracture of finger Knee flexion contracture Sacral dimple Allergic rhinitis Abnormal autonomic nervous system physiology Elbow flexion contracture Smooth tongue Absent patellar reflexes Renal insufficiency Pectus excavatum Rod-cone dystrophy Protruding ear Hearing impairment Metaphyseal widening Impaired pain sensation Severe combined immunodeficiency Abnormal cortical bone morphology Myoclonus Gastroesophageal reflux Conductive hearing impairment Abnormality of the nervous system Neutropenia Ectopic thyroid Thickened cortex of long bones Sensory impairment Lacrimation abnormality Lymphoma Hyporeflexia Trismus Bronchiectasis Lymphopenia Vasculitis Sensorineural hearing impairment Leukopenia Recurrent skin infections Glomerulonephritis Combined immunodeficiency Atopic dermatitis Craniosynostosis Bone marrow hypocellularity Smooth philtrum Rectal prolapse Aortic aneurysm Atrophic scars Fragile skin Aortic root aneurysm Soft skin Hiatus hernia Aortic dissection Periodontitis Varicose veins Generalized joint laxity Spondylolisthesis Bladder diverticulum Hyperextensibility of the finger joints Poor wound healing Hyperextensible skin Eczematoid dermatitis Lop ear Cigarette-paper scars Premature rupture of membranes Narrow maxilla Molluscoid pseudotumors Myxomatous mitral valve degeneration Arterial rupture Irregularly spaced teeth Bowel diverticulosis Hyperextensibility at elbow Subcutaneous spheroids Hyperextensibility of the knee Premature birth following premature rupture of fetal membranes Ectopia lentis Joint dislocation Stage 5 chronic kidney disease Elevated serum creatinine Thin vermilion border Short distal phalanx of finger Nephropathy Full cheeks Ectodermal dysplasia Hip dysplasia Limb undergrowth Hepatic fibrosis Abnormality of the metaphysis Cutis laxa Cone/cone-rod dystrophy Chronic kidney disease Nephronophthisis Cutaneous finger syndactyly Sagittal craniosynostosis Recurrent urinary tract infections Broad distal phalanx of finger Pes valgus Broad phalanx of the toes Dilatation Kyphoscoliosis Umbilical hernia Pes planus Joint laxity Abnormality of the foot Bruising susceptibility Retinal detachment Mitral valve prolapse Blue sclerae Osteoarthritis Bowing of the long bones Short palpebral fissure Oligohydramnios Malabsorption Pyelonephritis Neonatal hyperbilirubinemia Low-set ears Hepatomegaly Macrocephaly Splenomegaly Clinodactyly Posteriorly rotated ears Diabetes mellitus Proptosis Camptodactyly Dolichocephaly Hepatitis Decreased plasma carnitine Chronic diarrhea Type I diabetes mellitus Short chin Abnormal intestine morphology Relative macrocephaly Prominent occiput Chronic lung disease Interstitial pneumonitis Growth delay Cataract Hypertonia Hyperkeratosis Peripheral pulmonary artery stenosis Mild global developmental delay Pallor Hyperkinesis Fever Skeletal muscle atrophy Ventricular septal defect Respiratory insufficiency Dystonia Gait ataxia Difficulty walking Abnormal cardiac septum morphology Abnormality of movement Sleep disturbance Chorea Choreoathetosis Neonatal respiratory distress Cardiomegaly Athetosis Interstitial pulmonary abnormality Abnormality of the thyroid gland Congenital hypothyroidism Parkinsonism with favorable response to dopaminergic medication Increased thyroid-stimulating hormone level Compensated hypothyroidism Thyroid dysgenesis Cardiomyopathy Vomiting Dilated cardiomyopathy Pulmonic stenosis Dehydration Photophobia Dry skin Limitation of joint mobility Delayed ability to walk Narrow mouth Thin upper lip vermilion Anxiety Attention deficit hyperactivity disorder Unsteady gait Hypodontia Prominent nose Microdontia Hypsarrhythmia Oligodontia Eosinophilia Myopathic facies Thin eyebrow Long philtrum Intrauterine growth retardation Talipes equinovarus Osteoporosis Hyperhidrosis Osteopenia Skeletal dysplasia Abnormality of the eye Feeding difficulties in infancy Camptodactyly of finger Genu valgum Micromelia Paresthesia Recurrent fractures Hyperactivity Spasticity Ichthyosis Thrombocytopenia Tetraplegia Generalized myoclonic seizures Brain atrophy Delayed myelination Spastic tetraplegia High myopia Intellectual disability, profound Aspiration Scaling skin Abnormality of visual evoked potentials Drusen Myopathy Hepatosplenomegaly Hypertelorism Lymphadenopathy Nail dysplasia Nephrotic syndrome Hypoplasia of dental enamel Recurrent bacterial infections Abnormality of dental enamel Sarcoma Anhidrosis Autoimmune hemolytic anemia Hypoplasia of the iris Amelogenesis imperfecta Recurrent lower respiratory tract infections Intermittent diarrhea Membranous ventricular septal aneurysm


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