Muscular hypotonia, and Arthritis

Diseases related with Muscular hypotonia and Arthritis

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

Top matches:

Singleton-Merten syndrome-2 is characterized by variable expression of glaucoma, aortic calcification, and skeletal abnormalities, without dental anomalies (summary by Jang et al., 2015).For a general phenotypic description and discussion of genetic heterogeneity of Singleton-Merten syndrome, see SGMRT1 (OMIM ).

Related symptoms:

  • Short stature
  • Generalized hypotonia
  • Muscle weakness
  • Abnormal facial shape
  • Flexion contracture


SOURCES: OMIM MENDELIAN

More info about SINGLETON-MERTEN SYNDROME 2; SGMRT2

Leukocyte adhesion deficiency (LAD) is an autosomal recessive disorder of neutrophil function resulting from a deficiency of the beta-2 integrin subunit of the leukocyte cell adhesion molecule. The leukocyte cell adhesion molecule is present on the surface of peripheral blood mononuclear leukocytes and granulocytes and mediates cell-cell and cell-extracellular matrix adhesion. LAD is characterized by recurrent bacterial infections; impaired pus formation and wound healing; abnormalities of a wide variety of adhesion-dependent functions of granulocytes, monocytes, and lymphocytes; and a lack of beta-2/alpha-L, beta-2/alpha-M, and beta-2/alpha-X expression.

LEUKOCYTE ADHESION DEFICIENCY, TYPE I; LAD Is also known as lad1|lymphocyte function-associated antigen 1 immunodeficiency|lfa1 immunodeficiency

Related symptoms:

  • Intellectual disability
  • Short stature
  • Generalized hypotonia
  • Intellectual disability, severe
  • Immunodeficiency


SOURCES: OMIM MENDELIAN

More info about LEUKOCYTE ADHESION DEFICIENCY, TYPE I; LAD

Cataract-glaucoma syndrome is characterised by the association of total bilateral congenital cataract with the secondary occurrence of glaucoma appearing at ages varying between 10 and 40 years.

Related symptoms:

  • Seizures
  • Short stature
  • Generalized hypotonia
  • Pain
  • Feeding difficulties


SOURCES: ORPHANET MENDELIAN

More info about CATARACT-GLAUCOMA SYNDROME

Other less relevant matches:

Arthrochalasia-type EDS is distinguished from other types of EDS by the frequency of congenital hip dislocation and extreme joint laxity with recurrent joint subluxations and minimal skin involvement (Byers et al., 1997; Giunta et al., 2008).For a discussion of genetic heterogeneity of arthrochalasia-type EDS, see {130060}.

EHLERS-DANLOS SYNDROME TYPE 7B Is also known as eds viib|ehlers-danlos syndrome, type viib, autosomal dominant|eds7b

Related symptoms:

  • Short stature
  • Generalized hypotonia
  • Scoliosis
  • Micrognathia
  • Muscle weakness


SOURCES: OMIM ORPHANET MENDELIAN

More info about EHLERS-DANLOS SYNDROME TYPE 7B

Multiple epiphyseal dysplasia type 4 is a multiple epiphyseal dysplasia with a late-childhood onset, characterized by joint pain involving hips, knees, wrists, and fingers with occasional limitation of joint movements, deformity of hands, feet, and knees (club foot, clinodactyly, brachydactyly), scoliosis and slightly reduced adult height. Radiographs display flat epiphyses with early arthritis of the hip, and double-layered patella. Multiple epiphyseal dysplasia type 4 follows an autosomal recessive mode of transmission. The disease is allelic to diastrophic dwarfism, atelosteogenesis type 2 and achondrogenesis type 1B with whom it forms a clinical continuum.

MULTIPLE EPIPHYSEAL DYSPLASIA TYPE 4 Is also known as med4|multiple epiphyseal dysplasia, autosomal recessive|rmed|edm4|polyepiphyseal dysplasia type 4|multiple epiphyseal dysplasia with bilayered patellae|autosomal recessive multiple epiphyseal dysplasia|multiple epiphyseal dysplasia with clubfoot

Related symptoms:

  • Short stature
  • Generalized hypotonia
  • Scoliosis
  • Muscular hypotonia
  • Cleft palate


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about MULTIPLE EPIPHYSEAL DYSPLASIA TYPE 4

Congenital Tufting Enteropathy is a rare congenital enteropathy presenting with early-onset severe and intractable diarrhea that leads to irreversible intestinal failure.

CONGENITAL TUFTING ENTEROPATHY Is also known as intestinal epithelial cell dysplasia|enteropathy, congenital tufting|ied|cte|intestinal epithelial dysplasia

Related symptoms:

  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Microcephaly
  • Hypertelorism


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about CONGENITAL TUFTING ENTEROPATHY

cblF type methylmalonic acidemia with homocystinuria is a form of methylmalonic acidemia with homocystinuria (see this term), an inborn error of vitamin B12 (cobalamin) metabolism characterized by megaloblastic anemia, lethargy, failure to thrive, developmental delay, intellectual deficit and seizures.

METHYLMALONIC ACIDEMIA WITH HOMOCYSTINURIA TYPE CBLF Is also known as cobalamin, defect in lysosomal release of|cobalamin f defect|combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblf|cblf|vitamin b12 storage disease|vitamin b12 lysosomal release defect|methylmalonic aciduria due to vitamin b12-rele

Related symptoms:

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


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about METHYLMALONIC ACIDEMIA WITH HOMOCYSTINURIA TYPE CBLF

LESCH-NYHAN SYNDROME; LNS Is also known as hprt deficiency, complete|hypoxanthine guanine phosphoribosyltransferase 1 deficiency|hprt deficiency|hprt1 deficiency

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about LESCH-NYHAN SYNDROME; LNS

Juvenile Huntington disease (JHD) is a form of Huntington disease (HD; see this term), characterized by onset of signs and symptoms before 20 years of age.

JUVENILE HUNTINGTON DISEASE Is also known as huntington chorea|jhd|juvenile huntington chorea

Related symptoms:

  • Seizures
  • Ataxia
  • Cognitive impairment
  • Anemia
  • Delayed speech and language development


SOURCES: OMIM ORPHANET MENDELIAN

More info about JUVENILE HUNTINGTON DISEASE

Ehlers-Danlos syndrome due to tenascin-X deficiency is a type of Ehlers-Danlos syndrome characterized by generalized joint hypermobility, skin hyperextensibility and easy bruising without atrophic scarring. Other common features include foot and hand deformities (piezogenic papules, pes planus, broad forefeet, brachydactyly, and acrogenic skin of hands), severe fatigue and neuromuscular symptoms including muscle weakness and myalgia.

EHLERS-DANLOS SYNDROME DUE TO TENASCIN-X DEFICIENCY Is also known as eds, classic-like type|ehlers-danlos syndrome, classic-like type|ehlers-danlos syndrome due to tenascin-x deficiency|eds due to tnx deficiency|tnx deficiency

Related symptoms:

  • Muscle weakness
  • Muscular hypotonia
  • Pain
  • Peripheral neuropathy
  • Skeletal muscle atrophy


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about EHLERS-DANLOS SYNDROME DUE TO TENASCIN-X DEFICIENCY

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

Symptoms // Phenotype % cases
Generalized hypotonia Common - Between 50% and 80% cases
Short stature Common - Between 50% and 80% cases
Pain Uncommon - Between 30% and 50% cases
Rheumatoid arthritis Uncommon - Between 30% and 50% cases
Intellectual disability Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Global developmental delay Rigidity Scoliosis Arthralgia Seizures Bruising susceptibility Anemia Muscle weakness Flexion contracture

Rare Symptoms - Less than 30% cases

Joint hypermobility Atrophic scars Chorea Hernia Clumsiness Feeding difficulties Hypertension Vomiting Osteoarthritis Abnormality of the dentition Clinodactyly of the 5th finger Joint hyperflexibility Ataxia Hip dislocation Hyperactivity Joint laxity High palate Failure to thrive Abnormal facial shape Micrognathia Testicular atrophy Talipes equinovarus Small for gestational age Hyperextensible skin Dysarthria Delayed speech and language development Pneumonia Incoordination Poor wound healing Hyperreflexia Behavioral abnormality Megaloblastic anemia Irritability Dystonia Gait disturbance Soft skin Juvenile rheumatoid arthritis Clinodactyly Aggressive behavior Dysphagia Podagra Excessive purine production Bladder stones Cognitive impairment Abnormality of eye movement Abnormality of the cerebral white matter Gait ataxia Cough Mental deterioration Anxiety Tremor Ventriculomegaly Cerebellar atrophy Depressivity Dementia Myoclonus Weight loss Diabetes mellitus Hyperuricosuria Aortic valve stenosis Facial grimacing Choreoathetosis Megaloblastic bone marrow Decreased adenosylcobalamin Decreased methionine synthase activity Cystathioninuria Cystathioninemia Spasticity Motor delay Hypertonia Intellectual disability, mild Renal insufficiency Hematuria Nephropathy Abnormality of extrapyramidal motor function Recurrent urinary tract infections Focal dystonia Nephrolithiasis Stereotypy Spastic gait Finger clinodactyly Cerebral palsy Self-injurious behavior Oral-pharyngeal dysphagia Proximal placement of thumb Opisthotonus Hyperuricemia Self-mutilation Gout Dyslexia Athetosis Gliosis Infertility Sensory neuropathy Ambiguous genitalia Mitral valve prolapse Gastrointestinal hemorrhage Vesicoureteral reflux Bifid uvula Single transverse palmar crease Arachnodactyly Spina bifida Stroke Scarring Myalgia Proximal muscle weakness Arrhythmia Fatigue Thin skin Spina bifida occulta Peripheral neuropathy Increased connective tissue Premature arteriosclerosis Ambiguous genitalia, female Congenital adrenal hyperplasia Arteriosclerosis Rectal prolapse Muscle fiber splitting Precocious atherosclerosis Psoriasiform dermatitis Bicornuate uterus Proximal amyotrophy Adrenal hyperplasia Hiatus hernia Adrenal hypoplasia Unilateral renal agenesis Skeletal muscle atrophy Oral motor hypotonia Abnormality of movement Bradykinesia Schizophrenia Involuntary movements Broad-based gait Progressive neurologic deterioration Type II diabetes mellitus Generalized-onset seizure Neuronal loss in central nervous system Slurred speech Brain atrophy Hyperhomocystinemia Progressive cerebellar ataxia Abnormal cerebellum morphology Neurodegeneration Falls Hyperkinesis Personality changes Frequent temper tantrums Chronic bronchitis Suicidal ideation Neuronal loss in basal ganglia Abnormal involuntary eye movements Mania Paranoia Dilated fourth ventricle Head tremor Obsessive-compulsive behavior Upper limb undergrowth Restlessness Cerebellar vermis atrophy Bronchitis Muscle fibrillation Hypokinesia Akinesia Decreased methylcobalamin Developmental regression Glossitis Edema Proptosis Craniosynostosis Waddling gait Bone pain Increased intracranial pressure Hypercalcemia Rickets Osteomalacia Premature loss of teeth Papilledema Chondrocalcinosis Chronic pain Premature loss of primary teeth Pulmonary insufficiency Depressed nasal bridge Brachycephaly Kyphosis Osteoporosis Gastroesophageal reflux Umbilical hernia Pes planus Hyperlordosis Recurrent fractures Blue sclerae Congenital hip dislocation Wormian bones Joint dislocation Delayed gross motor development Hallux valgus Fragile skin Respiratory failure Constipation Excessive wrinkled skin Cellulitis Pulmonary edema Calcification of the aorta Mitral regurgitation Intellectual disability, severe Immunodeficiency Confusion Inflammatory abnormality of the skin Abnormal bleeding Otitis media Epistaxis Recurrent bacterial infections Recurrent skin infections Dry skin Leukocytosis Gingivitis Headache Periodontitis Peritonitis Abnormal thrombocyte morphology Recurrent bacterial skin infections Rectal abscess Decreased platelet glycoprotein IIb-IIIa Severe periodontitis Abnormal granulocyte morphology Recurrent staphylococcal infections Recurrent gram-negative bacterial infections Hyperkeratosis Glaucoma Fever Respiratory distress Hyperextensibility of the finger joints Subcutaneous hemorrhage Methylmalonic acidemia Acidosis Abnormal intestine morphology Long nose Celiac disease Underdeveloped supraorbital ridges Choanal stenosis Villous atrophy Trichorrhexis nodosa Intractable diarrhea Secretory diarrhea Vaginal fistula Low-set ears Epicanthus Thrombocytopenia Abnormal heart morphology Thin upper lip vermilion Sepsis Feeding difficulties in infancy Atopic dermatitis Skin rash Microtia Lethargy Neutropenia Aciduria Abnormality of the skin Pancytopenia Psychosis Macrocytic anemia Stomatitis Methylmalonic aciduria Homocystinuria Sloping forehead Abdominal distention Abnormality of the skeletal system Short finger Cleft palate Brachydactyly Skeletal dysplasia Small hand Short metacarpal Hip dysplasia Growth abnormality Epiphyseal dysplasia Metaphyseal irregularity Spondyloepiphyseal dysplasia Short middle phalanx of finger Mild short stature Metatarsus adductus Bilateral talipes equinovarus Multiple epiphyseal dysplasia Anal atresia Microcephaly Coloboma Blepharophimosis Posteriorly rotated ears Midface retrusion Diarrhea Hypertelorism Double-layered patella Abnormality of the knee Abnormality of the patella Hypoplasia of the femoral head Limited elbow flexion Knee pain Hip subluxation Flat capital femoral epiphysis Quadricuspid aortic valve


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