Flexion contracture, and Neurodegeneration

Diseases related with Flexion contracture and Neurodegeneration

In the following list you will find some of the most common rare diseases related to Flexion contracture and Neurodegeneration that can help you solving undiagnosed cases.

Top matches:

Early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome is a genetic neurodegenerative disease characterized by normal early development followed by childhood onset optic atrophy with progressive vision loss and eventually blindness, followed by progressive neurological decline that typically includes cerebellar ataxia, nystagmus, dorsal column dysfunction (decreased vibration and position sense), spastic paraplegia and finally tetraparesis.

EARLY-ONSET PROGRESSIVE NEURODEGENERATION-BLINDNESS-ATAXIA-SPASTICITY SYNDROME Is also known as ndgoa|neurodegeneration with optic atrophy, childhood-onset

Related symptoms:

  • Seizures
  • Ataxia
  • Nystagmus
  • Spasticity
  • Cognitive impairment


SOURCES: ORPHANET OMIM MENDELIAN

More info about EARLY-ONSET PROGRESSIVE NEURODEGENERATION-BLINDNESS-ATAXIA-SPASTICITY SYNDROME

PCNA-related progressive neurodegenerative photosensitivity syndrome is a rare neurodegenerative disease caused by homozygous mutations in the PCNA gene and characterized by neurodegeneration, postnatal growth retardation, prelingual sensorineural hearing loss, premature aging, ocular and cutaneous telangiectasia, learning difficulties, photophobia, and photosensitivity with evidence of predisposition to sun-induced malignancy. Progressive neurologic deterioration leads to gait disturbances, muscle weakness, speech and swallowing difficulties and progressive cognitive decline.

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about PCNA-RELATED PROGRESSIVE NEURODEGENERATIVE PHOTOSENSITIVITY SYNDROME

Low 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

Other less relevant matches:

Autosomal dominant spastic paraplegia type 4 (SPG4) is a form of hereditary spastic paraplegia with high intrafamilial clinical variability, characterized in most cases as a pure phenotype with an adult onset (mainly the 3rd to 5th decade of life, but that can present at any age) of progressive gait impairment due to bilateral lower-limb spasticity and weakness as well as very mild proximal weakness and urinary urgency. In some cases, a complex phenotype is also reported with additional manifestations including cognitive impairment, cerebellar ataxia, epilepsy and neuropathy. A faster disease progression is noted in patients with a later age of onset.

AUTOSOMAL DOMINANT SPASTIC PARAPLEGIA TYPE 4 Is also known as familial spastic paraplegia, autosomal dominant, 2|spg4|fsp2

Related symptoms:

  • Intellectual disability
  • Seizures
  • Ataxia
  • Nystagmus
  • Muscle weakness


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about AUTOSOMAL DOMINANT SPASTIC PARAPLEGIA TYPE 4

X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizures (XDIBS), or Pettigrew syndrome is a central nervous system malformation characterized by severe intellectual deficit, early hypotonia with progression to spasticity and contractures, choreoathetosis, seizures, dysmorphic face (long face with prominent forehead), and brain imaging abnormalities such as Dandy-Walker malformation (see this term), and iron deposition.

X-LINKED INTELLECTUAL DISABILITY-DANDY-WALKER MALFORMATION-BASAL GANGLIA DISEASE-SEIZURES SYNDROME Is also known as mental retardation, x-linked, with dandy-walker malformation, basal ganglia disease, and seizures|mrxs21|mrx59|mental retardation, x-linked 59|mrxs5|mental retardation, x-linked, syndromic, fried type|mrxsf|mental retardation, x-linked, syndromic 21|menta

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about X-LINKED INTELLECTUAL DISABILITY-DANDY-WALKER MALFORMATION-BASAL GANGLIA DISEASE-SEIZURES SYNDROME

Autosomal dominant cerebellar ataxias (ADCAs) are a heterogeneous group of disorders that were classified clinically by Harding (1983). Progressive cerebellar ataxia is the primary feature. In ADCA I, cerebellar ataxia of gait and limbs is invariably associated with supranuclear ophthalmoplegia, pyramidal or extrapyramidal signs, mild dementia, and peripheral neuropathy. In ADCA II, macular and retinal degeneration are added to the features. ADCA III is a pure form of late-onset cerebellar ataxia. ADCA I includes SCA1 (OMIM ), SCA2, and SCA3, or Machado-Joseph disease (OMIM ). These 3 are characterized at the molecular level by CAG repeat expansions on 6p24-p23, 12q24.1, and 14q32.1, respectively.For a general discussion of autosomal dominant spinocerebellar ataxia, see SCA1 (OMIM ).

SPINOCEREBELLAR ATAXIA 2; SCA2 Is also known as wadia-swami syndrome|spinocerebellar ataxia, cuban type|olivopontocerebellar atrophy, holguin type|spinocerebellar degeneration with slow eye movements|olivopontocerebellar atrophy ii|spinocerebellar atrophy ii|cerebellar degeneration with slow eye moveme

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about SPINOCEREBELLAR ATAXIA 2; SCA2

PEBAT is an autosomal recessive neurodevelopmental disorder characterized by severely delayed psychomotor development apparent soon after birth or in infancy, profound intellectual disability, poor or absent speech, and seizures. Most patients are never able to walk due to hypotonia or spasticity. Brain imaging shows cerebral and cerebellar atrophy, thin corpus callosum, and secondary hypomyelination. The disorder shows progressive features, including microcephaly, consistent with a neurodegenerative process (summary by Miyake et al., 2016; Flex et al., 2016).

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about EARLY-ONSET PROGRESSIVE DIFFUSE BRAIN ATROPHY-MICROCEPHALY-MUSCLE WEAKNESS-OPTIC ATROPHY SYNDROME

Machado-Joseph disease, named for affected families of Azorean extraction, is an autosomal dominant progressive neurologic disorder characterized principally by ataxia, spasticity, and ocular movement abnormalities. Although independently described as a seemingly separate disorder, spinocerebellar ataxia-3 is now known to be the same as Machado-Joseph disease.Three classic clinical subtypes of MJD are recognized: type 1 with early onset and marked pyramidal and dystonic signs; type 2, or pure, with predominant cerebellar ataxia; and type 3 with later-onset and peripheral neuropathy (Franca et al., 2008).

MACHADO-JOSEPH DISEASE; MJD Is also known as spinocerebellar ataxia 3|spinocerebellar atrophy iii|spinopontine atrophy|azorean neurologic disease|nigrospinodentatal degeneration|sca3

Related symptoms:

  • Ataxia
  • Nystagmus
  • Pain
  • Spasticity
  • Ptosis


SOURCES: OMIM MENDELIAN

More info about MACHADO-JOSEPH DISEASE; MJD

Infantile hypotonia with psychomotor retardation and characteristic facies (IHPRF) is a severe autosomal recessive neurologic disorder with onset at birth or in early infancy. Affected individuals show very poor, if any, normal cognitive development. Some patients are never learn to sit or walk independently (summary by Al-Sayed et al., 2013). Genetic Heterogeneity of Infantile Hypotonia with Psychomotor Retardation and Characteristic FaciesSee also IHPRF2 (OMIM ), caused by mutation in the UNC80 gene (OMIM ) on chromosome 2q34; and IHPRF3 (OMIM ), caused by mutation in the TBCK gene (OMIM ) on chromosome 4q24.

HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 1; IHPRF1 Is also known as ihprf

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Scoliosis


SOURCES: OMIM MENDELIAN

More info about HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 1; IHPRF1

Neurodegeneration with brain iron accumulation-2A is an autosomal recessive neurodegenerative disease characterized by onset in the first 2 years of life; it is also referred to as infantile neuroaxonal dystrophy (INAD). Pathologic findings include axonal swelling and spheroid bodies in the central nervous system (review by Gregory et al., 2009).

NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 2A; NBIA2A Is also known as inad|neurodegeneration, pla2g6-associated|neuroaxonal dystrophy, infantile|seitelberger disease|inad1|plan

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 2A; NBIA2A

Top 5 symptoms//phenotypes associated to Flexion contracture and Neurodegeneration

Symptoms // Phenotype % cases
Cerebellar atrophy Very Common - Between 80% and 100% cases
Spasticity Common - Between 50% and 80% cases
Optic atrophy Common - Between 50% and 80% cases
Ataxia Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases

Other less frequent symptoms

Patients with Flexion contracture and Neurodegeneration. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases

Seizures

Uncommon Symptoms - Between 30% and 50% cases

Hyperreflexia

Common Symptoms - More than 50% cases

Dementia

Uncommon Symptoms - Between 30% and 50% cases

Generalized hypotonia

Common Symptoms - More than 50% cases

Nystagmus

Uncommon Symptoms - Between 30% and 50% cases

Skeletal muscle atrophy Neuronal loss in central nervous system Peripheral neuropathy Mental deterioration Intellectual disability Dysarthria Abnormal pyramidal sign Muscular hypotonia Fasciculations Dysphagia Parkinsonism Microcephaly Cerebral atrophy Prominent forehead Impaired vibratory sensation Urinary bladder sphincter dysfunction Scoliosis Strabismus Unsteady gait Dystonia Myoclonus Gliosis Gait ataxia Spastic tetraplegia Depressivity Muscle weakness Encephalopathy Visual impairment Cerebral cortical atrophy Distal amyotrophy Developmental regression Tremor Tetraparesis Micrognathia Pes cavus Visual loss Babinski sign Cognitive impairment Constipation Abnormality of extrapyramidal motor function Progressive neurologic deterioration

Rare Symptoms - Less than 30% cases

Downbeat nystagmus Tongue fasciculations Wide mouth Difficulty walking Dilated fourth ventricle Hypometric saccades Ventriculomegaly Dysmetric saccades Short nose Motor delay Cryptorchidism Choreoathetosis Degeneration of the lateral corticospinal tracts Low back pain Lewy bodies Atrophy/Degeneration affecting the brainstem Impaired horizontal smooth pursuit Olivopontocerebellar atrophy External ophthalmoplegia Progressive cerebellar ataxia Limb ataxia Postural instability Sensory neuropathy Tetraplegia Abnormality of eye movement Ophthalmoplegia Diplopia Truncal ataxia Absent speech Severe muscular hypotonia Feeding difficulties Abnormality of the eye Spinal muscular atrophy Neonatal hypotonia Gaze-evoked nystagmus Rigidity Palatal myoclonus Bradykinesia Spinocerebellar tract degeneration Abnormal cerebellum morphology Supranuclear ophthalmoplegia Hallucinations Ankle clonus Aggressive behavior Nevus Sleep disturbance Irritability Rod-cone dystrophy Abnormality of metabolism/homeostasis Failure to thrive Progressive muscle weakness Sensorineural hearing impairment Hearing impairment Abnormality of the cerebral white matter Myokymia Postnatal microcephaly Sensorimotor neuropathy Hypoplasia of the corpus callosum Dysmetria Muscular hypotonia of the trunk Paraplegia Pectus carinatum Spastic paraplegia Progressive visual loss Generalized myoclonic seizures Delayed myelination Generalized muscle weakness Hypsarrhythmia Paralysis Autoamputation of digits Widely spaced teeth CNS hypomyelination Hypothyroidism Sparse eyebrow Hypothalamic hypothyroidism Decreased nerve conduction velocity Poor suck Arthrogryposis multiplex congenita Growth delay EMG: chronic denervation signs Hypertonia Cerebellar cortical atrophy Hypertelorism Elevated serum creatine phosphokinase Urinary retention Morphological abnormality of the pyramidal tract Corpus callosum atrophy Spinal deformities Gangrene Abnormality of visual evoked potentials Cortical dysplasia Upslanted palpebral fissure Autoamputation Diabetes insipidus Epiphora Keratitis Keratoconjunctivitis sicca Macrotia Cortical gyral simplification Torsion dystonia Amyotrophic lateral sclerosis Decreased number of peripheral myelinated nerve fibers Severe global developmental delay Progressive external ophthalmoplegia Delusions Broad forehead Postnatal growth retardation Absent Achilles reflex Spastic dysarthria Chronic pain Restless legs Ophthalmoparesis Delirium Facial-lingual fasciculations Abnormal electrooculogram Abnormal facial shape Low-set ears Central nervous system degeneration Brachycephaly Thin upper lip vermilion Hyperactivity Gastroesophageal reflux Akinesia Back pain Facial hypotonia Slender nose Chronic constipation Diffuse cerebral atrophy Areflexia Frontal bossing Pain Ptosis Fever Diabetes mellitus Proptosis Anxiety Poor eye contact Poor speech Decreased motor nerve conduction velocity Leukemia Confusion Polyneuropathy Muscle cramps Infantile muscular hypotonia Abnormal autonomic nervous system physiology Spastic tetraparesis Triangular face Smooth philtrum Edema Aplasia/Hypoplasia of the cerebellum Hypopnea Respiratory insufficiency Loss of speech Progressive encephalopathy Visual hallucinations Undetectable electroretinogram Motor deterioration Decreased light- and dark-adapted electroretinogram amplitude Psychomotor deterioration Vacuolated lymphocytes Intracellular accumulation of autofluorescent lipopigment storage material Increased neuronal autofluorescent lipopigment Abnormality of the nervous system Muscle fibrillation Lower limb muscle weakness Urinary incontinence Memory impairment Lower limb spasticity Spastic gait Paraparesis Spastic paraparesis Hyperkinesis Apathy Brisk reflexes Peripheral visual field loss Global brain atrophy Urinary urgency Head titubation Myopia Pes planus Intention tremor Clonus Horizontal nystagmus Myotonia Titubation Upper limb spasticity Gaze-evoked horizontal nystagmus Facial myokymia Short stature Macular degeneration Immunodeficiency Photophobia Cutaneous photosensitivity Telangiectasia Progressive sensorineural hearing impairment Conjunctival telangiectasia Blindness EEG abnormality Brain atrophy Progressive microcephaly Agitation Progressive spastic paraplegia Pontocerebellar atrophy Chorea Self-injurious behavior Basal ganglia calcification High-frequency hearing impairment Abnormality of the basal ganglia Hyporeflexia Apnea Pallor Retinopathy Retinal degeneration Dyskinesia Pigmentary retinopathy Narrow face Broad-based gait Oculomotor apraxia Drooling Poor head control Dysdiadochokinesis Postural tremor Resting tremor Poor coordination Action tremor Slow saccadic eye movements Pointed chin Cerebral calcification Impaired vibration sensation in the lower limbs Hydrocephalus Neurofibrillary tangles Arachnoid cyst Neurogenic bladder Disinhibition Hyperreflexia in upper limbs Motor neuron atrophy Leg muscle stiffness Impaired vibration sensation at ankles Functional motor deficit Macrocephaly Intellectual disability, severe Dandy-Walker malformation Inguinal hernia Cerebellar hypoplasia Mandibular prognathia High forehead Coarse facial features Deeply set eye Protruding ear Long face Thick vermilion border Prominent nose Cerebellar gliosis


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