Failure to thrive, and Dementia

Diseases related with Failure to thrive and Dementia

In the following list you will find some of the most common rare diseases related to Failure to thrive and Dementia that can help you solving undiagnosed cases.

Top matches:

Spinocerebellar ataxia-7 (SCA7) is an autosomal dominant neurodegenerative disorder characterized by adult onset of progressive cerebellar ataxia associated with pigmental macular dystrophy. In her classification of ataxia, Harding (1982) referred to progressive cerebellar ataxia with pigmentary macular degeneration as type II ADCA (autosomal dominant cerebellar ataxia). The age at onset, degree of severity, and rate of progression vary among and within families. Associated neurologic signs, such as ophthalmoplegia, pyramidal or extrapyramidal signs, deep sensory loss, or dementia, are also variable. Genetic anticipation is observed and is greater in paternal than in maternal transmissions (Benomar et al., 1994; summary by David et al., 1996).For a general discussion of autosomal dominant spinocerebellar ataxia, see SCA1 (OMIM ).

SPINOCEREBELLAR ATAXIA 7; SCA7 Is also known as opca iii|opca with macular degeneration and external ophthalmoplegia|adca, type ii|olivopontocerebellar atrophy iii|opca3|opca with retinal degeneration|autosomal dominant cerebellar ataxia, type ii

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Ataxia
  • Nystagmus
  • Failure to thrive


SOURCES: OMIM MENDELIAN

More info about SPINOCEREBELLAR ATAXIA 7; SCA7

GM2 gangliosidosis, AB variant is an extremely rare, severe genetic disorder characterized by progressive neurological decline due to ganglioside activator deficiency.

GM2 GANGLIOSIDOSIS, AB VARIANT Is also known as tay-sachs disease, ab variant|ab variant gm2-gangliosidosis|hexosaminidase activator deficiency|gm2 activator deficiency

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Failure to thrive


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about GM2 GANGLIOSIDOSIS, AB VARIANT

Kohlschütter-Tönz syndrome (KTS) is a genetically heterogeneous autosomal recessive syndrome characterized by the triad of amelogenesis imperfect, infantile onset epilepsy, intellectual disability with or without regression and dementia.

AMELOCEREBROHYPOHIDROTIC SYNDROME Is also known as epilepsy and yellow teeth|kohlschutter syndrome|kohlschutter-tonz syndrome|epilepsy, dementia, and amelogenesis imperfecta|epilepsy-dementia-amelogenesis imperfecta syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Microcephaly


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about AMELOCEREBROHYPOHIDROTIC SYNDROME

Other less relevant matches:

Medium match CLN1 DISEASE

The neuronal ceroid lipofuscinoses (NCL; CLN) are a clinically and genetically heterogeneous group of neurodegenerative disorders characterized by the intracellular accumulation of autofluorescent lipopigment storage material in different patterns ultrastructurally. The lipopigment pattern seen most often in CLN1 is referred to as granular osmiophilic deposits (GROD). The patterns most often observed in CLN2 and CLN3 are 'curvilinear' and 'fingerprint' profiles, respectively. CLN4, CLN5, CLN6, CLN7, and CLN8 show mixed combinations of granular, curvilinear, fingerprint, and rectilinear profiles. The clinical course includes progressive dementia, seizures, and progressive visual failure (Mole et al., 2005).Zeman and Dyken (1969) referred to these conditions as the 'neuronal ceroid lipofuscinoses.' Goebel (1995) provided a comprehensive review of the NCLs and noted that they are possibly the most common group of neurodegenerative diseases in children.Mole et al. (2005) provided a detailed clinical and genetic review of the neuronal ceroid lipofuscinoses. Genetic Heterogeneity of Neuronal Ceroid LipofuscinosisSee also CLN2 (OMIM ), caused by mutation in the TPP1 gene (OMIM ) on chromosome 11p15; CLN3 (OMIM ), caused by mutation in the CLN3 gene (OMIM ) on 16p12; CLN4A (OMIM ), caused by mutation in the CLN6 gene (OMIM ) on 15q21; CLN4B (OMIM ), caused by mutation in the DNAJC5 gene (OMIM ) on 20q13; CLN5 (OMIM ), caused by mutation in the CLN5 gene (OMIM ) on 13q; CLN6 (OMIM ), caused by mutation in the CLN6 gene (OMIM ) on 15q21; CLN7 (OMIM ), caused by mutation in the MFSD8 gene (OMIM ) on 4q28; CLN8 (OMIM ) and the Northern epilepsy variant of CLN8 (OMIM ), caused by mutation in the CLN8 gene (OMIM ) on 8pter; CLN10 (OMIM ), caused by mutation in the CTSD gene (OMIM ) on 11p15; CLN11 (OMIM ), caused by mutation in the GRN gene (OMIM ) on 17q; CLN13 (OMIM ), caused by mutation in the CTSF gene (OMIM ) on 11q13; and CLN14 (OMIM ), caused by mutation in the KCTD7 gene (OMIM ) on 7q11.CLN9 (OMIM ) has not been molecularly characterized.A disorder that was formerly designated neuronal ceroid lipofuscinosis-12 (CLN12) is now considered to be a variable form of Kufor-Rakeb syndrome (KRS ).

CLN1 DISEASE Is also known as ceroid lipofuscinosis, neuronal, 1, variable age at onset

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about CLN1 DISEASE

HYPERLIPOPROTEINEMIA, TYPE I Is also known as lpl deficiency|hyperchylomicronemia, familial|lipase d deficiency|lipd deficiency|lipoprotein lipase deficiency|hyperlipemia, essential familial|chylomicronemia, familial|hyperlipemia, idiopathic, burger-grutz type|hyperlipoproteinemia, type ia

Related symptoms:

  • Growth delay
  • Failure to thrive
  • Pain
  • Anemia
  • Visual impairment


SOURCES: OMIM MENDELIAN

More info about HYPERLIPOPROTEINEMIA, TYPE I

Sanfilippo syndrome B is an autosomal recessive lysosomal storage disorder characterized by the accumulation of heparan sulfate. Clinically, patients have progressive neurodegeneration, behavioral problems, mild skeletal changes, and shortened life span. The clinical severity ranges from mild to severe (Chinen et al., 2005).For a phenotypic description and a discussion of genetic heterogeneity of Sanfilippo syndrome, or mucopolysaccharidosis III, see MPS IIIA (OMIM ).

MUCOPOLYSACCHARIDOSIS, TYPE IIIB; MPS3B Is also known as sanfilippo syndrome b|mps iiib|n-acetyl-alpha-d-glucosaminidase deficiency|naglu deficiency

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Ataxia


SOURCES: OMIM MENDELIAN

More info about MUCOPOLYSACCHARIDOSIS, TYPE IIIB; MPS3B

Pelizaeus-Merzbacher disease is an X-linked recessive hypomyelinative leukodystrophy (HLD1) in which myelin is not formed properly in the central nervous system. PMD is characterized clinically by nystagmus, spastic quadriplegia, ataxia, and developmental delay (Inoue, 2005). Genetic Heterogeneity of Hypomyelinating LeukodystrophyOther forms of hypomyelinating leukodystrophy include HLD2 (OMIM ), caused by mutation in the GJC2/GJA12 gene (OMIM ) on chromosome 1q41; HLD3 (OMIM ), caused by mutation in the AIMP1 gene (OMIM ) on chromosome 4q24; HLD4 (OMIM ), caused by mutation in the HSPD1 gene (OMIM ) on chromosome 2q33.1; and HLD5 (OMIM ), caused by mutation in the FAM126A gene (OMIM ) on chromosome 7p15; HLD6 (OMIM ), caused by mutation in the TUBB4A gene (OMIM ) on chromosome 19p13; HLD7 (OMIM ), caused by mutation in the POLR3A gene (OMIM ) on chromosome 10q22; HLD8 (OMIM ), caused by mutation in the POLR3B gene (OMIM ) on chromosome 12q23; HLD9 (OMIM ), caused by mutation in the RARS gene (OMIM ) on chromosome 5; HLD10 (OMIM ), caused by mutation in the PYCR2 gene (OMIM ) on chromosome 1q42; HLD11 (OMIM ), caused by mutation in the POLR1C gene (OMIM ) on chromosome 6p21; HLD12 (OMIM ), caused by mutation in the VPS11 gene (OMIM ) on chromosome 11q23; HLD13 (OMIM ) caused by mutation in the HIKESHI gene (OMIM ) on chromosome 11q14; HLD14 (OMIM ), caused by mutation in the UFM1 gene (OMIM ) on chromosome 13q13; HLD15 (OMIM ), caused by mutation in the EPRS gene (OMIM ) on chromosome 1q41; HLD16 (OMIM ), caused by mutation in the TMEM106B gene (OMIM ) on chromosome 7p21; and HLD17 (OMIM ), caused by mutation in the AIMP2 gene (OMIM ) on chromosome 7p22.

PELIZAEUS-MERZBACHER DISEASE; PMD Is also known as leukodystrophy, hypomyelinating, 1|hld1

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about PELIZAEUS-MERZBACHER DISEASE; PMD

Neurodegeneration with brain iron accumulation is a genetically heterogeneous disorder characterized by progressive iron accumulation in the basal ganglia and other regions of the brain, resulting in extrapyramidal movements, such as parkinsonism and dystonia. Age at onset, severity, and cognitive involvement are variable (review by Gregory et al., 2009).Panthothenate kinase-associated neurodegeneration has been classified clinically as 'classic,' 'atypical,' or 'intermediate.' In the classic form, patients present within the first decade of life with rapidly progressing disease and loss of ambulation approximately 15 years later. In the atypical form, patients have onset in the second decade with slow progression and maintain independent ambulation after 15 years. In the intermediate form, patients have early onset and slow progression or later onset and rapid progression. Patients with early onset tend to develop pigmentary retinopathy, whereas those with later onset tend to have speech disorders and psychiatric features. All patients have the 'eye of the tiger' sign on brain MRI (Hayflick et al., 2003; Pellecchia et al., 2005).Kumar et al. (2006) noted that the 'eye of the tiger' sign is not pathognomonic for PANK2 mutations. They reported 2 unrelated adult patients with cognitive dysfunction who had the characteristic sign on MRI but did not have mutations in the PANK2 gene.Gregory et al. (2009) provided a detailed review of the different forms of neurodegeneration with brain iron accumulation.In addition, some patients with Kufor-Rakeb syndrome (OMIM ), also known as Parkinson disease-9 (PARK9), have iron deposition in the basal ganglia. Genetic Heterogeneity of Neurodegeneration with Brain Iron AccumulationNeurodegeneration with brain iron accumulation is an umbrella term that encompasses a group of genetically heterogeneous disorders. See also NBIA2A (OMIM ) and NBIA2B (OMIM ), both caused by mutation in the PLA2G6 gene (OMIM ); NBIA3 (OMIM ), caused by mutation in the FTL gene (OMIM ); NBIA4 (OMIM ), caused by mutation in the C19ORF12 gene (OMIM ); NBIA5 (OMIM ), caused by mutation in the WDR45 gene (OMIM ); NBIA6 (OMIM ), caused by mutation in the COASY gene (OMIM ); NBIA7 (OMIM ), caused by mutation in the REPS1 gene (OMIM ); and NBIA8 (OMIM ), caused by mutation in the CRAT gene (OMIM ).See review of Schneider and Bhatia (2012) on syndromes of neurodegeneration with brain iron accumulation, including Kufor-Rakeb disease (OMIM ) and aceruloplasminemia (OMIM ).

NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 1; NBIA1 Is also known as hallervorden-spatz disease|pkan|pkan neuroaxonal dystrophy, juvenile-onset|pantothenate kinase-associated neurodegeneration

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Ataxia
  • Failure to thrive


SOURCES: OMIM ORPHANET MENDELIAN

More info about NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 1; NBIA1

3-methylglutaconic aciduria (3-MGA) type I is an inborn error of leucine metabolism with a variable clinical phenotype ranging from mildly delayed speech to psychomotor retardation, coma, failure to thrive, metabolic acidosis and dystonia.

3-METHYLGLUTACONIC ACIDURIA TYPE 1 Is also known as 3-methylglutaconyl-coa hydratase deficiency|3mg-coa hydratase deficiency|mga1|3-mg-coa-hydratase deficiency|mga, type i

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Microcephaly


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about 3-METHYLGLUTACONIC ACIDURIA TYPE 1

Alpers Huttenlocher syndrome (AHS) is a cerebrohepatopathy and a rare and severe form of mitochondrial DNA (mtDNA) depletion syndrome characterized by the triad of progressive developmental regression, intractable seizures, and hepatic failure.

ALPERS-HUTTENLOCHER SYNDROME Is also known as alpers syndrome|alpers-huttenlocher syndrome|pndc|alpers progressive infantile poliodystrophy|progressive neuronal degeneration of childhood with liver disease|neuronal degeneration of childhood with liver disease, progressive|alpers diffuse degeneration

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about ALPERS-HUTTENLOCHER SYNDROME

Top 5 symptoms//phenotypes associated to Failure to thrive and Dementia

Symptoms // Phenotype % cases
Global developmental delay Very Common - Between 80% and 100% cases
Ataxia Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Spasticity Common - Between 50% and 80% cases
Neurodegeneration Common - Between 50% and 80% cases

Other less frequent symptoms

Patients with Failure to thrive and Dementia. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases

Intellectual disability

Uncommon Symptoms - Between 30% and 50% cases

Optic atrophy Cerebral atrophy Developmental regression Microcephaly Generalized hypotonia Short stature Hyperreflexia Blindness Abnormality of movement Encephalopathy Muscular hypotonia Motor delay Dystonia Myoclonus Choreoathetosis Dysarthria Tremor Hearing impairment Visual loss Hyperactivity Mental deterioration Dysphagia Abnormal pyramidal sign Visual impairment Paralysis Cognitive impairment Clumsiness Behavioral abnormality Severe global developmental delay Growth delay Hepatomegaly Loss of speech Peripheral neuropathy Memory impairment Delayed speech and language development Cerebellar atrophy Brain atrophy Progressive neurologic deterioration Depressivity Spastic paraplegia Nystagmus Retinal degeneration Chorea Areflexia Progressive visual loss Retinopathy Paraplegia

Rare Symptoms - Less than 30% cases

Dysmetria Flexion contracture Coma Aciduria Coarse hair Spastic paraparesis Paraparesis Rod-cone dystrophy Neuronal loss in central nervous system Epileptic encephalopathy Focal-onset seizure 3-Methylglutaconic aciduria EEG abnormality Pigmentary retinopathy Cachexia Parkinsonism Irritability Akinesia Acanthocytosis Elevated hepatic transaminase Jaundice Cerebral degeneration Splenomegaly Diarrhea Vomiting Slurred speech Sleep disturbance Progressive cerebellar ataxia Psychomotor deterioration Acidosis Progressive encephalopathy Peripheral visual field loss Global brain atrophy Urinary incontinence Intellectual disability, severe Joint stiffness Tics Tetraplegia Progressive spasticity Head tremor Gait disturbance Spastic tetraparesis Babinski sign Recurrent respiratory infections Progressive spastic quadriplegia Spastic diplegia Abnormality of visual evoked potentials Feeding difficulties Neurological speech impairment Orofacial dyskinesia Myopathy Involuntary movements Cerebral cortical atrophy Rigidity Limb ataxia Macular degeneration Spastic tetraplegia Gastroesophageal reflux Hypertonia Impulsivity Dysphonia Hyperkinesis Torticollis Oral-pharyngeal dysphagia Bowel incontinence Joint dislocation Obsessive-compulsive behavior Stridor Personality changes Alzheimer disease Decreased muscle mass Abnormality of the musculature Iris hypopigmentation Spinal muscular atrophy Blepharospasm Generalized dystonia Arteriovenous malformation Feeding difficulties in infancy Hyperpigmentation of the skin Abnormality of skin pigmentation Nyctalopia Abnormality of the foot Weight loss Constipation Epilepsia partialis continua Elevated serum creatine phosphokinase Abnormal cranial nerve morphology Phonic tics Talipes equinovarus Reduction of oligodendroglia Diffuse cerebral sclerosis Congenital laryngeal stridor Ethylmalonic aciduria Sudanophilic leukodystrophy Head titubation Macrogyria Cerebral dysmyelination Falls Scanning speech Bradykinesia Apraxia Frequent falls Rotary nystagmus Stereotypy Abnormality of vision Eye of the tiger anomaly of globus pallidus Shuffling gait Peripheral axonal neuropathy Increased serum lactate Gliosis Gastric ulcer Hepatic failure Cirrhosis Lactic acidosis Generalized tonic-clonic seizures Hepatitis Abnormality of the liver Abnormality of the eye Retrognathia Respiratory failure Pneumonia Intrauterine growth retardation Generalized-onset seizure Status epilepticus Chronic hepatitis Gastrointestinal dysmotility Encephalitis Cerebral visual impairment Celiac disease Increased CSF protein Severe failure to thrive Fetal akinesia sequence Decreased liver function Hemiparesis Hepatic fibrosis Astrocytosis Cholestasis Bile duct proliferation Microvesicular hepatic steatosis Micronodular cirrhosis Fever Micrognathia Muscle fiber splitting Progressive night blindness Cataract Palilalia Aceruloplasminemia Intellectual disability, progressive Multifocal seizures Eyelid apraxia Equinovarus deformity Recurrent infections Motor tics Stooped posture Obsessive-compulsive trait Anarthria Mood swings Facial grimacing Cardiomyopathy Gait ataxia Progressive forgetfulness Athetosis Hyperchloremic acidosis Testicular dysgenesis Nonprogressive cerebellar ataxia Abnormality of the basal ganglia Skeletal myopathy Short attention span Leukoencephalopathy Hypoglycemia Febrile seizures Neutropenia Metabolic acidosis Confusion Unsteady gait Abnormality of the cerebral white matter Dilated cardiomyopathy Failure to thrive in infancy Abnormality of vitamin metabolism Abnormality of the urinary system Broad thumb Infantile axial hypotonia Glabellar reflex Punctate periventricular T2 hyperintense foci Abnormal fear/anxiety-related behavior GM2-ganglioside accumulation Ventriculomegaly Hydrocephalus Absent speech Cerebellar hypoplasia Upslanted palpebral fissure Smooth philtrum Hypsarrhythmia Intellectual disability, profound Cerebellar vermis hypoplasia Hypoplasia of dental enamel Cherry red spot of the macula Hypohidrosis Abnormality of dental enamel Amelogenesis imperfecta Abnormality of dental color Yellow-brown discoloration of the teeth Abnormality of metabolism/homeostasis Nevus Postnatal microcephaly Hallucinations Progressive microcephaly Muscle fibrillation Visual hallucinations Undetectable electroretinogram Motor deterioration Abnormal involuntary eye movements Hyperacusis Vacuolated lymphocytes Olivopontocerebellar atrophy Ptosis Reduced visual acuity Ophthalmoplegia Dyskinesia Abnormality of extrapyramidal motor function External ophthalmoplegia Schizophrenia Incoordination Ophthalmoparesis Blurred vision Macular dystrophy Bipolar affective disorder Slow saccadic eye movements Spinocerebellar tract degeneration Limb tremor Pseudobulbar signs Aspiration Inappropriate behavior Exaggerated startle response Primitive reflex Limb dystonia Apathy Poor head control Tetraparesis Supranuclear ophthalmoplegia Generalized myoclonic seizures Postnatal growth retardation Muscular hypotonia of the trunk Anxiety Muscle weakness Spinocerebellar atrophy Decreased light- and dark-adapted electroretinogram amplitude Intracellular accumulation of autofluorescent lipopigment storage material CNS hypomyelination Heparan sulfate excretion in urine Lipemia retinalis Increased circulating chylomicron concentration Pancreatic calcification Increased hepatocellular lipid droplets Lactescent serum Coarse facial features Aggressive behavior Synophrys Hirsutism Cardiomegaly Recurrent upper respiratory tract infections Protuberant abdomen Dysostosis multiplex Asymmetric septal hypertrophy Thickened ribs Eruptive xanthomas Premature birth Cerebral palsy Increased body weight Muscle stiffness Leukodystrophy Lower limb spasticity Broad-based gait Neonatal hypotonia Ovoid thoracolumbar vertebrae Hyporeflexia Kyphosis Respiratory insufficiency Skeletal muscle atrophy Scoliosis Dense calvaria Recurrent pancreatitis Chronic pancreatitis Increased neuronal autofluorescent lipopigment Hyperlipidemia Pain Anemia Hyperhidrosis Abdominal pain Hepatosplenomegaly Pallor Skin rash Nausea and vomiting Nausea Hepatic steatosis Abdominal distention Hypertriglyceridemia Pancreatitis Atherosclerosis Hypercholesterolemia Intestinal bleeding Foam cells Hypersplenism Acute pancreatitis Chills Hyperlipoproteinemia Hypocholesterolemia Precocious atherosclerosis Impaired proprioception EMG: myopathic abnormalities Peritonitis Peripheral arterial stenosis Episodic abdominal pain Steatorrhea Glucose intolerance Back pain Cerebral cortical neurodegeneration


If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Intrauterine growth retardation and Cerebral atrophy, related diseases and genetic alterations Melanoma and Vesicoureteral reflux, related diseases and genetic alterations Lymphoma and Hypoplasia of the corpus callosum, related diseases and genetic alterations Ptosis and Short palm, related diseases and genetic alterations