Muscular hypotonia, and Lymphedema

Diseases related with Muscular hypotonia and Lymphedema

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

Top matches:

Lissencephaly syndrome, Norman-Roberts type is characterised by the association of lissencephaly type I with craniofacial anomalies (severe microcephaly, a low sloping forehead, a broad and prominent nasal bridge and widely set eyes) and postnatal growth retardation.

LISSENCEPHALY SYNDROME, NORMAN-ROBERTS TYPE Is also known as norman-roberts syndrome|lissencephaly syndrome, norman-roberts type|microlissencephaly type a

Related symptoms:

  • Intellectual disability
  • Seizures
  • Generalized hypotonia
  • Microcephaly
  • Growth delay


SOURCES: ORPHANET OMIM MENDELIAN

More info about LISSENCEPHALY SYNDROME, NORMAN-ROBERTS TYPE

Medium match MPI-CDG

MPI-CDG is a form of congenital disorders of N-linked glycosylation, characterized by cyclic vomiting, profound hypoglycemia, failure to thrive, liver fibrosis, gastrointestinal complications (protein-losing enteropathy with hypoalbuminaemia, life-threatening intestinal bleeding of diffuse origin), and thrombotic events (protein C and S deficiency, low anti-thrombine III levels), whereas neurological development and cognitive capacity is usually normal. The clinical course is variable even within families. The disease is caused by loss of function of the gene MPI (15q24.1).

MPI-CDG Is also known as cdg-ib|cdg, gastrointestinal type|congenital disorder of glycosylation type ib|carbohydrate deficient glycoprotein syndrome type ib|saguenay-lac saint-jean syndrome|mpi deficiency|slsj syndrome|phosphomannose isomerase deficiency|cdg ib|cdgib|protein-losi

Related symptoms:

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


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about MPI-CDG

Alpha-N-acetylgalactosaminidase (NAGA) deficiency type 1 is a very rare and severe type of NAGA deficiency (see this term) characterized by infantile neuroaxonal dystrophy.

ALPHA-N-ACETYLGALACTOSAMINIDASE DEFICIENCY TYPE 1 Is also known as schindler disease type 1|naga deficiency type 1

Related symptoms:

  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Nystagmus
  • Strabismus


SOURCES: ORPHANET MENDELIAN

More info about ALPHA-N-ACETYLGALACTOSAMINIDASE DEFICIENCY TYPE 1

Other less relevant matches:

Mucopolysaccharidosis type VII (MPS VII) is a very rare lysosomal storage disease belonging to the group of mucopolysaccharidoses.

MUCOPOLYSACCHARIDOSIS TYPE 7 Is also known as mpsvii|beta-glucuronidase deficiency|sly disease|mucopolysaccharidosis type vii|mps7

Related symptoms:

  • Intellectual disability
  • Scoliosis
  • Muscular hypotonia
  • Short neck
  • Splenomegaly


SOURCES: ORPHANET MENDELIAN

More info about MUCOPOLYSACCHARIDOSIS TYPE 7

Autosomal recessive chorioretinopathy-microcephaly syndrome is a rare neuro-opthalmological disease characterized by severe microcephaly of prenatal onset (with diminutive anterior fontanelle and sutural ridging), growth retardation, global developmental delay and intellectual disability (ranging from mild to profound), dysmorphic features (sloping forehead, micro/retrognathia, prominent ears) and visual impairments (including microphthalmia to anophtalmia, generalized retinopathy or multiple punched-out retinal lesions, retinal folds with retinal detachment, optic nerve hypoplasia, strabismus, nystagmus). Brain MRI may show reduced cortical size, cerebral hemispheres, corpus callosum, pachygyria, symplified gyral folding or normal pattern. Other associated features include epilepsy and neurological deficits.

AUTOSOMAL RECESSIVE CHORIORETINOPATHY-MICROCEPHALY SYNDROME Is also known as autosomal recessive chorioretinopathy-microcephaly-intellectual disability syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about AUTOSOMAL RECESSIVE CHORIORETINOPATHY-MICROCEPHALY SYNDROME

Infantile systemic hyalinosis (ISH) is a very rare disorder belonging to the heterogeneous group of genetic fibromatoses and is characterized by progressive joint contractures, skin abnormalities, severe chronic pain and widespread deposition of hyaline material in many tissues such as the skin, skeletal muscle, cardiac muscle, gastrointestinal tract, lymph nodes, spleen, thyroid, and adrenal glands.

Related symptoms:

  • Growth delay
  • Failure to thrive
  • Muscular hypotonia
  • Feeding difficulties
  • Brachydactyly


SOURCES: ORPHANET MENDELIAN

More info about INFANTILE SYSTEMIC HYALINOSIS

Medium match ALG8-CDG

ALG8-CDG is a form of congenital disorders of N-linked glycosylation that is characterized by gastrointestinal symptoms (diarrhea, vomiting, feeding problems with failure to thrive, protein-losing enteropathy), edema and ascites (including hydrops fetalis; see this term), hepatomegaly, renal tubulopathy, coagulation anomalies due to thrombocytopenia, brain involvement (psychomotor delay, seizures, ataxia), facial dysmorphism (low-set ears and retrognathia), pes equinovarus, and muscular hypotonia. Cataracts may also be observed. Prognosis is usually poor. The disease is caused by loss-of-function mutations in the gene ALG8 (11q14.1), resulting in a block in the initial step of protein glycosylation.

ALG8-CDG Is also known as cdg-ih|congenital disorder of glycosylation type 1h|cdgih|carbohydrate deficient glycoprotein syndrome type ih|cdg1h|cdg syndrome type ih|cdg ih|glucosyltransferase 2 deficiency|congenital disorder of glycosylation type ih

Related symptoms:

  • Generalized hypotonia
  • Growth delay
  • Hypertelorism
  • Failure to thrive
  • Abnormal facial shape


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about ALG8-CDG

Microcephaly with or without chorioretinopathy, lymphedema or intellectual disability (MCLID) is a rare autosomal dominant condition characterized by variable expression of microcephaly, ocular disorders including chorioretinopathy, congenital lymphedema of the lower limbs, and mild to moderate intellectual disability.

MICROCEPHALY-LYMPHEDEMA-CHORIORETINOPATHY SYNDROME Is also known as mlcrd

Related symptoms:

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


SOURCES: ORPHANET MENDELIAN

More info about MICROCEPHALY-LYMPHEDEMA-CHORIORETINOPATHY SYNDROME

Alpha-N-acetylgalactosaminidase (NAGA) deficiency is a very rare lysosomal storage disorder. It is clinically heterogeneous with 3 main phenotypes: type I is an infantile-onset neuroaxonal dystrophy; type II, also known as Kanzaki disease (OMIM ), is an adult-onset disorder characterized by angiokeratoma corporis diffusum and mild intellectual impairment; and type III is an intermediate disorder with mild to moderate neurologic manifestations (Desnick and Schindler, 2001).

SCHINDLER DISEASE, TYPE I Is also known as neuroaxonal dystrophy, schindler type|naga deficiency, type i|alpha-n-acetylgalactosaminidase deficiency, type i

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment


SOURCES: OMIM ORPHANET MENDELIAN

More info about SCHINDLER DISEASE, TYPE I

Malignant hyperthermia susceptibility (MHS), a skeletal muscle disorder most often inherited as an autosomal dominant trait, is one of the main causes of death due to anesthesia. In susceptible people, a malignant hyperthermia episode is triggered by exposure to commonly used volatile anesthetic agents such as halothane or depolarizing muscle relaxants such as succinyl choline. A fulminant MH crisis is characterized by any combination of hyperthermia, skeletal muscle rigidity, tachycardia or arrhythmia, respiratory and metabolic acidosis, and rhabdomyolysis. Except for this susceptibility to triggering agents, MHS patients are not clinically distinguishable from the general population (summary by Monnier et al., 1997). Genetic Heterogeneity of Susceptibility to Malignant HyperthermiaOther MHS loci include MHS2 (OMIM ) on chromosome 17q; MHS3 (OMIM ) on chromosome 7q; MHS4 (OMIM ) on chromosome 3q; MHS5 (OMIM ), caused by mutation in the CACNA1S gene (OMIM ) on chromosome 1q32; and MHS6 (OMIM ) on chromosome 5p.

MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 1; MHS1 Is also known as mhs|hyperthermia of anesthesia|mh|hyperpyrexia, malignant

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Generalized hypotonia
  • Scoliosis


SOURCES: OMIM MENDELIAN

More info about MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 1; MHS1

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

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Generalized hypotonia Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Hepatomegaly Uncommon - Between 30% and 50% cases
Cataract Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Nystagmus Scoliosis Optic atrophy Spasticity Strabismus Hypertonia Global developmental delay Intellectual disability, severe Short neck Failure to thrive Coarse facial features Sloping forehead Hyperreflexia Cerebellar hypoplasia Microcephaly Growth delay Hypertelorism

Rare Symptoms - Less than 30% cases

Subcutaneous nodule Muscle weakness Telangiectasia of the skin Generalized amyotrophy Atrial septal defect Aplasia/Hypoplasia of the cerebellum Cerebral visual impairment Retinal detachment Myopia Vertigo Skin ulcer Peripheral neuropathy Developmental regression Hypertrophic cardiomyopathy Autism Myoclonus Thickened skin Osteopenia Rigidity Wide nasal bridge Retinopathy Protruding ear Glaucoma Cerebral cortical atrophy Microphthalmia Anteverted nares Intrauterine growth retardation Abnormality of retinal pigmentation Joint stiffness Short stature Pointed chin Abnormal eyelash morphology Chorioretinal dysplasia Brachydactyly Ascites Severe short stature Hearing impairment Retinal dystrophy Edema Thick vermilion border Diarrhea Decreased fetal movement Apnea Malabsorption Anemia Hepatic failure Abnormal bleeding Chronic diarrhea Vomiting Tachypnea Hypoalbuminemia Abnormality of the coagulation cascade Abnormal intestine morphology Long philtrum Blindness Ptosis Cryptorchidism Protein-losing enteropathy Pachygyria Abnormal facial shape Generalized-onset seizure Epicanthus Diffuse white matter abnormalities Congenital cataract Specific learning disability Tetraplegia Generalized myoclonic seizures Leukemia Clonus Cardiomegaly Psychomotor deterioration Wide nose Recurrent pneumonia Vegetative state Lymphoma Full cheeks Dry skin Abnormal eyelid morphology Gastroesophageal reflux Abnormality of the cerebral white matter Scaling skin Retinal dysplasia Abnormality of the optic nerve Leukonychia Gangrene Underdeveloped supraorbital ridges Chylothorax Cellulitis Anophthalmia Pleural effusion Erysipelas Panniculitis Severe global developmental delay Melanonychia Abnormality of vision Venous thrombosis Muscle stiffness Abnormality of the hair Cognitive impairment Amblyopia Constipation Abnormal toenail morphology Status epilepticus Skeletal dysplasia Abnormal nasolacrimal system morphology Downslanted palpebral fissures Vascular skin abnormality Myopathic facies Lactic acidosis Tachycardia Joint hypermobility Metabolic acidosis Muscle cramps Webbed neck Hypotension Lumbar hyperlordosis Shock Ventricular arrhythmia Deep philtrum Myotonia Ventricular fibrillation Hyperkalemia Arthrogryposis multiplex congenita Abnormality of the sternum Rhabdomyolysis Congenital ptosis Diaphragmatic eventration Respiratory arrest Acute kidney injury Scaphocephaly Myoglobinuria Malignant hyperthermia Thoracic kyphosis Low hanging columella Hyperphosphatemia Breech presentation Limb muscle weakness Muscular dystrophy Angiokeratoma Malar flattening Progressive psychomotor deterioration Angiokeratoma corporis diffusum Long-tract signs Oligosacchariduria Increased urinary O-linked sialopeptides Low-set ears Flexion contracture High palate Fever Severe lactic acidosis Myopathy Kyphosis Renal insufficiency Dilatation Pectus carinatum Midface retrusion Pectus excavatum Arrhythmia Elevated serum creatine phosphokinase Pes cavus Hyperhidrosis Acidosis Kyphoscoliosis Proximal muscle weakness Myalgia Hyperlordosis Stroke Sinus tachycardia Long upper lip Abnormality of the eye Recurrent fractures Upslanted palpebral fissure Sensory neuropathy Type I transferrin isoform profile Microvesicular hepatic steatosis Intestinal lymphangiectasia Secretory diarrhea Reduced antithrombin III activity Reduced factor XI activity Lymphangiectasis Hyperkeratosis Abnormal pyramidal sign Paresthesia Abnormality of extrapyramidal motor function Abnormal thrombosis Telangiectasia Hemiplegia/hemiparesis Abnormality of brainstem morphology Splenomegaly Inguinal hernia Recurrent respiratory infections Umbilical hernia Corneal opacity Flat face Hepatitis Hydrops fetalis Enterocolitis Congenital hepatic fibrosis Abnormality of the hip bone Type I lissencephaly Hypoplasia of the corpus callosum Cerebellar atrophy Agenesis of corpus callosum Postnatal growth retardation Prominent nasal bridge Intellectual disability, profound Lissencephaly Prominent occiput Severe postnatal growth retardation Colpocephaly Cavum septum pellucidum Thick cerebral cortex Generalized edema Bitemporal hollowing Hypoglycemia Abnormality of the liver Cirrhosis Hepatic steatosis Coma Gastrointestinal hemorrhage Hepatic fibrosis Hyperinsulinemic hypoglycemia Hypoproteinemia Villous atrophy Metatarsus adductus Epiphyseal stippling Visual loss Thrombocytopenia Increased susceptibility to fractures Urticaria Abnormality of dental morphology Steatorrhea Abnormality of the musculature Osteomalacia Abnormality of the gastrointestinal tract Abnormality of the adrenal glands Aplasia/Hypoplasia of the thymus Ventricular septal defect Talipes equinovarus Patent ductus arteriosus Recurrent bacterial infections Hypothyroidism Dyspnea Camptodactyly Abnormal cardiac septum morphology Pulmonary hypoplasia Cholestasis Large fontanelles Decreased liver function Abnormality of the renal tubule Primary hypothyroidism Abnormal isoelectric focusing of serum transferrin Polycystic ovaries Hyperpigmentation of the skin Arteriovenous malformation Cone/cone-rod dystrophy Abnormality of the pleura Enlarged thorax Diaphyseal thickening Mucopolysacchariduria Anterior beaking of lumbar vertebrae Anterior beaking of lower thoracic vertebrae Visual impairment Cerebral atrophy Abnormality of skin pigmentation Pigmentary retinopathy Optic disc pallor Abnormality of neuronal migration Gingival overgrowth Cortical gyral simplification Biparietal narrowing Vitreoretinopathy Retinal fold Feeding difficulties Macrocephaly Immunodeficiency Osteoporosis Camptodactyly of finger Micromelia Short palm Mixed respiratory and metabolic acidosis


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