Generalized hypotonia, and Hyperglycemia

Diseases related with Generalized hypotonia and Hyperglycemia

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

Top matches:

Infantile cerebellar-retinal degeneration is a rare, neurodegenerative disorder characterized by an early onset of truncal hypotonia, variable forms of seizures, athetosis, severe global developmental delay, intellectual disability and various ophthalmologic abnormalities, including strabismus, nystagmus, optic atrophy and retinal degeneration.

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about INFANTILE CEREBELLAR-RETINAL DEGENERATION

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

Saguenay-Lac-St. Jean (SLSJ) type congenital lactic acidosis, a French Canadian form of Leigh syndrome (see this term), is a mitochondrial disease characterized by chronic metabolic acidosis, hypotonia, facial dysmorphism and delayed development.

CONGENITAL LACTIC ACIDOSIS, SAGUENAY-LAC-SAINT-JEAN TYPE Is also known as cytochrome oxidase deficiency, saguenay-lac-saint-jean type|cytochrome c oxidase deficiency, french canadian type|cytochrome c oxidase deficiency, french-canadian type|cox deficiency, french canadian type|leigh syndrome, french-canadian type|slsj-cox defi

Related symptoms:

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


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about CONGENITAL LACTIC ACIDOSIS, SAGUENAY-LAC-SAINT-JEAN TYPE

Other less relevant matches:

Congenital fiber-type disproportion (CFTD) myopathy is a genetically heterogeneous disorder in which there is relative hypotrophy of type 1 muscle fibers compared to type 2 fibers on skeletal muscle biopsy. However, these findings are not specific and can be found in many different myopathic and neuropathic conditions. Clarke and North (2003) stated that the diagnosis of 'congenital fiber-type disproportion' as a disease entity is one of exclusion. They also suggested that the nonspecific histologic findings should be termed 'fiber size disproportion,' thus reserving the term CFTD for those cases in which no secondary cause can be found.

MYOPATHY, CONGENITAL, WITH FIBER-TYPE DISPROPORTION; CFTD Is also known as cftdm|fiber-type disproportion myopathy, congenital

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Scoliosis
  • Growth delay


SOURCES: OMIM MENDELIAN

More info about MYOPATHY, CONGENITAL, WITH FIBER-TYPE DISPROPORTION; CFTD

High match DK1-CDG

DK1-CDG is characterised by muscular hypotonia and ichthyosis. It has been described in four children from two consanguineous families. All the affected children died during early infancy, two from dilated cardiomyopathy. The syndrome is caused by a deficiency in dolichol kinase 1 (DK1), an enzyme involved in the de novo biosynthesis of dolichol phosphate. The mutations identified in the DK1 gene led to a 96 to 98% reduction in DK activity.

DK1-CDG Is also known as cdg-im|cdg im|hypotonia and ichthyosis due to dolichol phosphate deficiency|cdg syndrome type im|congenital disorder of glycosylation type im|congenital disorder of glycosylation type 1m|cdgim|dk1 deficiency|cdg1m|carbohydrate deficient glycoprotein syndr

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Growth delay


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about DK1-CDG

Mandibuloacral dysplasia with type A lipodystrophy (MADA) is an autosomal recessive disorder characterized by growth retardation, craniofacial anomalies with mandibular hypoplasia, skeletal abnormalities with progressive osteolysis of the distal phalanges and clavicles, and pigmentary skin changes. The lipodystrophy is characterized by a marked acral loss of fatty tissue with normal or increased fatty tissue in the neck and trunk. Some patients may show progeroid features. Metabolic complications can arise due to insulin resistance and diabetes (Young et al., 1971; Simha and Garg, 2002; summary by Garavelli et al., 2009).See also MAD type B (MADB ), which is caused by mutation in the ZMPSTE24 gene (OMIM ).

MANDIBULOACRAL DYSPLASIA WITH TYPE A LIPODYSTROPHY; MADA Is also known as craniomandibular dermatodysostosis|lipodystrophy, type a, associated with mandibuloacral dysplasia

Related symptoms:

  • Short stature
  • Generalized hypotonia
  • Hearing impairment
  • Growth delay
  • Neoplasm


SOURCES: OMIM MENDELIAN

More info about MANDIBULOACRAL DYSPLASIA WITH TYPE A LIPODYSTROPHY; MADA

ARTERIAL TORTUOSITY SYNDROME; ATS Is also known as arterial tortuosity

Related symptoms:

  • Intellectual disability
  • Seizures
  • Generalized hypotonia
  • Scoliosis
  • Hypertelorism


SOURCES: OMIM MENDELIAN

More info about ARTERIAL TORTUOSITY SYNDROME; ATS

KAUFMAN OCULOCEREBROFACIAL SYNDROME; KOS Is also known as blepharophimosis-ptosis-intellectual disability syndrome|bpids

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about KAUFMAN OCULOCEREBROFACIAL SYNDROME; KOS

High match H SYNDROME

H syndrome is a systemic inherited histiocytosis, with characteristic cutaneous findings accompanying systemic manifestations. H syndrome refers to the major clinical findings of hyperpigmentation, hypertrichosis, hepatosplenomegaly, heart anomalies, hearing loss, hypogonadism, low height, and occasionally, hyperglycemia/diabetes mellitus. Due to overlapping clinical features, H syndrome is now considered to include pigmented hypertrichosis with insulin dependent diabetes mellitus syndrome (PHID), Faisalabad histiocytosis (FHC) and familial sinus histiocytosis with massive lymphadenopathy (FSHML).

H SYNDROME Is also known as sinus histiocytosis and massive lymphadenopathy|hjcd|shml|hyperpigmentation, cutaneous, with hypertrichosis, hepatosplenomegaly, heart anomalies, and hypogonadism with or without hearing loss|h syndrome|faisalabad histiocytosis|pigmented hypertrichosis wi

Related symptoms:

  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Hearing impairment
  • Growth delay


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about H SYNDROME

High match COSTELLO SYNDROME

Costello syndrome (CS) is a rare multisystemic disorder characterized by failure to thrive, short stature, developmental delay or intellectual disability, joint laxity, soft skin, and distinctive facial features. Cardiac and neurological involvement is common and there is an increased lifetime risk of certain tumors.

COSTELLO SYNDROME Is also known as fcs syndrome|faciocutaneoskeletal syndrome

Related symptoms:

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


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about COSTELLO SYNDROME

Top 5 symptoms//phenotypes associated to Generalized hypotonia and Hyperglycemia

Symptoms // Phenotype % cases
Global developmental delay Common - Between 50% and 80% cases
Failure to thrive Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Ptosis Common - Between 50% and 80% cases

Other less frequent symptoms

Patients with Generalized hypotonia and Hyperglycemia. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases

Growth delay

Uncommon Symptoms - Between 30% and 50% cases

High palate Muscular hypotonia Hypertelorism Diabetes mellitus Anteverted nares Hyperkeratosis Short stature Flexion contracture Strabismus Delayed puberty Absent speech Micrognathia Hypoglycemia Nystagmus Thin skin Short nose Epidermal acanthosis Muscle weakness Hearing impairment Apnea Muscular hypotonia of the trunk Edema Cardiomyopathy Dysphagia Myopathy Feeding difficulties Osteopenia Postprandial hyperglycemia Abnormality of the nervous system Sparse hair Hyperpigmentation of the skin Postnatal growth retardation Acanthosis nigricans Aspiration Full cheeks Pectus carinatum Respiratory failure Hypertension Abnormality of the kidney Proptosis Hernia Hirsutism Osteoporosis Long philtrum Respiratory distress Cerebral cortical atrophy Scoliosis Posteriorly rotated ears Atrial septal defect Ventriculomegaly Ventricular septal defect Increased body weight Joint laxity Hyperinsulinemia Epicanthus Alopecia Peripheral neuropathy Poor suck Progeroid facial appearance Hepatomegaly Abnormal facial shape Intellectual disability, mild Motor delay Insulin resistance Long face

Rare Symptoms - Less than 30% cases

Hypotrichosis Scarring Insulin-resistant diabetes mellitus Narrow mouth Infantile muscular hypotonia Glucose intolerance Cognitive impairment Splenomegaly Renal insufficiency Dilatation Arrhythmia Dry skin Ichthyosis Abnormality of the dentition Tetraplegia Recurrent pneumonia Narrow face Neurodevelopmental delay Lipoatrophy Microcytic anemia Neoplasm Abnormality of the skeletal system Sparse and thin eyebrow Hematemesis Sepsis Wide anterior fontanel Brachydactyly Myopia Gastroesophageal reflux Coarse facial features Pes planus Conductive hearing impairment Feeding difficulties in infancy Astigmatism Thick vermilion border Hypertrichosis Narrow palate Low-set ears Frontal bossing Hydrocephalus Abnormal heart morphology Delayed skeletal maturation Severe short stature Hypogonadism Low-set, posteriorly rotated ears Growth hormone deficiency Overgrowth Mitral valve prolapse Depressed nasal bridge Soft skin Abnormality of the skin Pectus excavatum Convex nasal ridge Hypertriglyceridemia Dental crowding Osteolysis Lipodystrophy Reduced subcutaneous adipose tissue Prematurely aged appearance Hypoplasia of teeth Macrocephaly Downslanted palpebral fissures Inguinal hernia Growth hormone excess Macrotia Blepharophimosis Pulmonic stenosis Amenorrhea Telangiectasia Gynecomastia Cutis laxa Hyperextensible skin Heart murmur Keratoconus Tracheomalacia Atrial fibrillation Short chin Respiratory insufficiency Bradycardia Clinodactyly Sensorineural hearing impairment Pallor Dehydration Pneumonia Cryptorchidism Skeletal muscle atrophy Metabolic acidosis Pancreatic hypoplasia Stroke Wide nasal bridge Failure to thrive in infancy Type I diabetes mellitus Delayed speech and language development Neonatal hypotonia Ataxia Microcephaly Hypsarrhythmia Intrauterine growth retardation Central apnea Hypertrophic cardiomyopathy Prominent forehead Vomiting Ketoacidosis Areflexia Dilated cardiomyopathy Hypoplasia of the corpus callosum Intellectual disability, severe Muscular dystrophy Acidosis Proximal muscle weakness Hypospadias Aspiration pneumonia Limb joint contracture Exocrine pancreatic insufficiency Enlarged kidney Lower limb muscle weakness Severe sensorineural hearing impairment Episodic fever Polycythemia Scleroderma Elevated erythrocyte sedimentation rate Increased antibody level in blood Hallux valgus Leukocytosis Stridor Psoriasiform dermatitis Sleep apnea Abnormal eyebrow morphology Skin nodule Varicose veins Panniculitis Cerebral atrophy Short neck Talipes equinovarus Dysarthria Seborrheic keratosis Retroperitoneal fibrosis Upper eyelid edema Bilateral camptodactyly Cervical lymphadenopathy Stiff skin Snoring Episcleritis Facial telangiectasia Communicating hydrocephalus Myelofibrosis Generalized lymphadenopathy Corneal arcus Hyperplasia of the maxilla Broad finger Abnormality of cardiovascular system physiology Chronic rhinitis Reticulocytopenia Histiocytosis Nasal obstruction Recurrent pharyngitis Decreased serum testosterone level Azoospermia Cardiomegaly Plagiocephaly Thick nail Onychauxis Long palm Laryngeal stridor Narrow palm Female pseudohermaphroditism Macrodontia Broad eyebrow Abnormality of the abdominal wall Abnormality of the upper urinary tract Diastema Advanced eruption of teeth Hypocholesterolemia Long penis Ovarian cyst Hyperreflexia Bilateral conductive hearing impairment Furrowed tongue Ovoid vertebral bodies Bell-shaped thorax Abnormality of the thyroid gland Metatarsus adductus Neonatal respiratory distress Clitoral hypertrophy Sparse eyebrow Precocious puberty Polycystic ovaries Coarse hair Abnormality of the outer ear Anemia Fever Elbow flexion contracture Cleft upper lip Hypergonadotropic hypogonadism Gingival overgrowth Bronchiectasis Primary amenorrhea Blue sclerae Epistaxis Pes cavus Bilateral sensorineural hearing impairment Decreased testicular size Wide intermamillary distance Recurrent fractures Polyneuropathy Flat face Lymphadenopathy Visual loss Abnormality of the foot Malabsorption Retinopathy Abnormal cardiac septum morphology Camptodactyly Hepatosplenomegaly Dyspnea Hypothyroidism Micropenis Optic atrophy Cerebellar atrophy Patent ductus arteriosus Encephalopathy Abnormality of cardiovascular system morphology Hypermetropia Hyperhidrosis Concave nail Deep plantar creases Thin nail Large face Papilloma Bronchomalacia Fetal distress Limited elbow movement Abnormality of earlobe Schwannoma Broad femoral neck Rhabdomyosarcoma Hyperextensibility of the finger joints Pneumothorax Fasting hypoglycemia Triangular mouth Broad philtrum Abnormal mitral valve morphology Asymmetric septal hypertrophy Deep palmar crease Labial hypoplasia Redundant neck skin Abnormality of the testis Lack of skin elasticity Verrucae Large forehead Achilles tendon contracture Thick upper lip vermilion Large earlobe Melena Capillary malformation Barrel-shaped chest Choroid plexus papilloma Systolic heart murmur Thickened Achilles tendon Congenital neuroblastoma Lymphangiectasis Alveolar rhabdomyosarcoma Tendon rupture Vitreomacular adhesion Myofiber disarray Enlarged cerebellum Macrocephaly at birth Loose anagen hair Cardiomyocyte hypertrophy Bladder carcinoma Neonatal sepsis Bladder neoplasm Multifocal atrial tachycardia Embryonal rhabdomyosarcoma Deep-set nails Vestibular Schwannoma Frontal hirsutism Ganglioneuroblastoma Transitional cell carcinoma of the bladder Concentric hypertrophic cardiomyopathy Hypopnea Shyness Body odor Ulnar deviation of the wrist Duodenal ulcer Abnormal pulmonary valve morphology Woolly hair Megalencephaly Polyhydramnios Ascites Hydrops fetalis Lymphedema Long eyelashes Decreased body weight Hypoplasia of dental enamel Thick lower lip vermilion Apraxia Eczema Hip dysplasia Webbed neck Premature birth Nevus Macroglossia Postural instability Abnormality of the hair Sleep disturbance High, narrow palate Hematuria Wide nose Tachycardia Joint hypermobility Joint hyperflexibility Arthrogryposis multiplex congenita Wide mouth Irritability Intellectual disability, moderate Carcinoma Kyphoscoliosis Cafe-au-lait spot Hoarse voice Fragile nails Large for gestational age Thickened nuchal skin fold Microscopic hematuria Severe postnatal growth retardation Obstructive sleep apnea Neonatal hypoglycemia Arnold-Chiari type I malformation Syringomyelia Central hypotonia Generalized hyperpigmentation Ulnar deviation of finger Rhabdomyolysis Neuroblastoma Curly hair Rocker bottom foot Pointed chin Tricuspid regurgitation Hypoplastic toenails Bilateral cryptorchidism Pleural effusion Aortic aneurysm Redundant skin Pyloric stenosis Laryngomalacia Relative macrocephaly Arnold-Chiari malformation Hemangioma Abnormal dermatoglyphics Abnormality of the fingernails Abnormality of dental enamel Nephrocalcinosis Abnormality of the eye Generalized hirsutism Rigidity Dental malocclusion Round face Tremor Dystonia Short distal phalanx of finger Abnormality of skin pigmentation Malar flattening Midface retrusion Nail dystrophy Cerebellar hypoplasia Paralysis Joint stiffness Retrognathia Nephrotic syndrome Developmental regression Lactic acidosis Hepatic steatosis Highly arched eyebrow Coma Cataract Pain Gliosis Increased serum lactate Aplasia of the fingers Adactyly Abnormal isoelectric focusing of serum transferrin Abnormality of the cardiovascular system Clinodactyly of the 4th finger Type I transferrin isoform profile High pitched voice Vertebral compression fractures Osteolytic defects of the phalanges of the hand Down-sloping shoulders Narrow nose Premature loss of teeth Short clavicles Arthropathy Mild global developmental delay Spinal rigidity Autoimmune antibody positivity Hypermelanotic macule Delayed cranial suture closure Focal segmental glomerulosclerosis Elevated hemoglobin A1c Hyperostosis Absent eyebrow Congenital muscular dystrophy Glomerulosclerosis Dermal atrophy Hyperlipidemia Atherosclerosis Beta-cell dysfunction Wormian bones Transient neonatal diabetes mellitus Thickened ears Large fontanelles Sparse scalp hair Reduced antithrombin III activity Aplasia/Hypoplasia of the nipples Prominent superficial veins Centrally nucleated skeletal muscle fibers Stroke-like episode Breathing dysregulation CNS demyelination Microvesicular hepatic steatosis Congestive heart failure Congenital lactic acidosis Increased hepatocellular lipid droplets Type 1 fibers relatively smaller than type 2 fibers Spinal deformities Abnormal glucose tolerance Nemaline bodies Difficulty running Weak cry Increased CSF lactate Glycosuria Bulbar palsy Multiple joint contractures Facial palsy Respiratory insufficiency due to muscle weakness Congenital hip dislocation Ophthalmoplegia Progressive muscle weakness Clumsiness Limb muscle weakness Lumbar hyperlordosis Decreased fetal movement Waddling gait Elevated serum creatine phosphokinase Anteriorly placed anus Congenital hepatic fibrosis Leukopenia Hypoketotic hypoglycemia Myocarditis Epileptic spasms Peripheral demyelination Intention tremor Broad-based gait Abnormality of coagulation Bilateral talipes equinovarus Ventricular fibrillation Erythroderma Sacral dimple Ventricular tachycardia Severe muscular hypotonia Elevated hepatic transaminase Sparse eyelashes Decreased liver function Low anterior hairline Postnatal microcephaly Truncal ataxia Inflammatory abnormality of the skin Cyanosis Abnormal bleeding Shock Neutropenia Leukoencephalopathy Tachypnea Myalgia Calcinosis Broad distal phalanx of finger Preauricular skin tag Soft, doughy skin Generalized-onset seizure Progressive microcephaly Progressive hearing impairment Athetosis Muscle fibrillation Poor eye contact Aortic tortuosity Abnormality of hair density Telangiectases of the cheeks Internal ophthalmoplegia Curved fingers Generalized arterial tortuosity Fourth cranial nerve palsy Clinodactyly of the 5th finger Cranial nerve VI palsy Decreased fertility in males Bitemporal hemianopia Adrenocorticotropin deficient adrenal insufficiency Dyspareunia Female hypogonadism Sudden loss of visual acuity Decreased circulating ACTH level Decreased female libido Arterial tortuosity Decreased fertility in females Secondary growth hormone deficiency Galactorrhea Recurrent infections Constipation Rectal prolapse Smooth philtrum Hyporeflexia Agenesis of corpus callosum Fine hair Coarctation of aorta Optic disc pallor Intestinal malrotation Abdominal distention Microcornea Single transverse palmar crease Postaxial polydactyly Iris coloboma Generalized muscle weakness Carious teeth Upslanted palpebral fissure Coloboma Abnormality of the pinna Hyperlordosis Telecanthus Proteinuria Severe global developmental delay Thin upper lip vermilion Abnormality of eye movement Retinal degeneration Retinal dystrophy Mandibular prognathia Polydactyly Brachycephaly Oculomotor nerve palsy Abnormal thrombosis Narrow nasal ridge Abnormality of the fingertips Polydipsia Radial deviation of finger Polyuria Headache Blindness Fatigue Abnormality of the ear Abnormality of the immune system Stiff elbow Foamy urine Progressive clavicular acroosteolysis Increased facial adipose tissue Acroosteolysis of distal phalanges (feet) Umbilical hernia Foot pain Thin clavicles Increased adipose tissue around the neck Aplasia/Hypoplasia of the clavicles Osteolytic defects of the distal phalanges of the hand Limb-girdle muscle atrophy Bird-like facies Mottled pigmentation Loss of subcutaneous adipose tissue in limbs Prominent metopic ridge Breast aplasia Wide cranial sutures Generalized lipodystrophy Bilateral ptosis Progressive neurologic deterioration Bladder diverticulum Easy fatigability Adrenocorticotropic hormone deficiency Pituitary hypothyroidism Male hypogonadism Hiatus hernia Demyelinating peripheral neuropathy Pulmonary artery stenosis Vegetative state Aortic root aneurysm Atrophic scars Blurred vision Impotence Epiphora Ischemic stroke Arachnodactyly Small for gestational age Aortic regurgitation Confusion Hypogonadotrophic hypogonadism Aortic valve stenosis Downturned corners of mouth Diplopia Ventricular hypertrophy Congenital diaphragmatic hernia Progressive visual loss Hypotension Bruising susceptibility Vertigo Increased corneal curvature


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