Flexion contracture, and Parkinsonism

Diseases related with Flexion contracture and Parkinsonism

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

Top matches:

Hypermanganesemia with dystonia-2 is an autosomal recessive neurodegenerative disorder characterized predominantly by loss of motor milestones in the first years of life. Affected individuals then develop rapidly progressive abnormal movements, including dystonia, spasticity, bulbar dysfunction, and variable features of parkinsonism, causing loss of ambulation. Cognition may be impaired, but is better preserved than motor function. The disorder results from abnormal accumulation of manganese (Mn), which is toxic to neurons. Chelation therapy, if started early, may provide clinical benefit (summary by Tuschl et al., 2016).For a discussion of genetic heterogeneity of HMNDYT, see HMNDYT1 (OMIM ).

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about DYSTONIA-PARKINSONISM-HYPERMANGANESEMIA SYNDROME

Infantile dystonia-parkinsonism (IPD) is an extremely rare inherited neurological syndrome that presents in early infancy with hypokinetic parkinsonism and dystonia and that can be fatal.

INFANTILE DYSTONIA-PARKINSONISM Is also known as dopamine transporter deficiency syndrome|ipd|pkdys|dtds

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Cognitive impairment
  • Flexion contracture
  • Feeding difficulties


SOURCES: OMIM ORPHANET MENDELIAN

More info about INFANTILE DYSTONIA-PARKINSONISM

Autosomal dominant spastic paraplegia type 10 (SPG10) is a rare type of hereditary spastic paraplegia that can present as either a pure form of spastic paraplegia with lower limb spasticity, hyperreflexia and extensor plantar responses, presenting in childhood or adolescence, or as a complex phenotype associated with additional manifestations including peripheral neuropathy with upper limb amyotrophy, moderate intellectual disability and parkinsonism. Deafness and retinitis pigmentosa were reported in one case.

AUTOSOMAL DOMINANT SPASTIC PARAPLEGIA TYPE 10 Is also known as spastic paraplegia 10 with or without peripheral neuropathy|spg10

Related symptoms:

  • Intellectual disability
  • Hearing impairment
  • Scoliosis
  • Ataxia
  • Spasticity


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about AUTOSOMAL DOMINANT SPASTIC PARAPLEGIA TYPE 10

Other less relevant matches:

Autosomal dominant dopa-responsive dystonia (DYT5a) is a rare neurometabolic disorder characterized by childhood-onset dystonia that shows a dramatic and sustained response to low doses of levodopa (L-dopa) and that may be associated with parkinsonism at an older age.

AUTOSOMAL DOMINANT DOPA-RESPONSIVE DYSTONIA Is also known as hpd with marked diurnal fluctuation|gtpch1-deficient dopa-responsive dystonia|gtpch1-deficient drd|dyt5a|hereditary progressive dystonia with marked diurnal fluctuation|autosomal dominant segawa syndrome

Related symptoms:

  • Intellectual disability
  • Hearing impairment
  • Scoliosis
  • Ataxia
  • Hypertension


SOURCES: ORPHANET MENDELIAN

More info about AUTOSOMAL DOMINANT DOPA-RESPONSIVE DYSTONIA

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

DYSTONIA, DOPA-RESPONSIVE; DRD Is also known as dystonia, progressive, with diurnal variation|dystonia 5|segawa syndrome, autosomal dominant|dystonia, dopa-responsive, autosomal dominant|dopa-responsive dystonia, autosomal dominant|dystonia-parkinsonism with diurnal fluctuation|dyt5

Related symptoms:

  • Intellectual disability
  • Hearing impairment
  • Scoliosis
  • Nystagmus
  • Spasticity


SOURCES: ORPHANET OMIM MENDELIAN

More info about DYSTONIA, DOPA-RESPONSIVE; DRD

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

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

X-linked intellectual disability-psychosis-macroorchidism syndrome is characterised by the association of moderate intellectual deficit with manic-depressive psychosis, pyramidal signs and macroorchidism. It has been described in 10 males. The syndrome is transmitted as an X-linked trait and has been associated with a mutation in the MECP2 gene, localised to segment 28 of the long arm of the X chromosome (Xq28).

X-LINKED INTELLECTUAL DISABILITY-PSYCHOSIS-MACROORCHIDISM SYNDROME Is also known as lindsay-burn syndrome|mental retardation, x-linked 79|mrx79|ppmx|mental retardation, x-linked, with spasticity|mrx16|ppm-x|mental retardation with psychosis, pyramidal signs, and macroorchidism|mental retardation, x-linked 16

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about X-LINKED INTELLECTUAL DISABILITY-PSYCHOSIS-MACROORCHIDISM SYNDROME

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 Parkinsonism

Symptoms // Phenotype % cases
Spasticity Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Dystonia Common - Between 50% and 80% cases
Ataxia Common - Between 50% and 80% cases
Tremor Common - Between 50% and 80% cases

Other less frequent symptoms

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

Common Symptoms - More than 50% cases

Bradykinesia

Uncommon Symptoms - Between 30% and 50% cases

Abnormality of extrapyramidal motor function

Common Symptoms - More than 50% cases

Babinski sign

Uncommon Symptoms - Between 30% and 50% cases

Global developmental delay

Common Symptoms - More than 50% cases

Generalized hypotonia

Uncommon Symptoms - Between 30% and 50% cases

Rigidity Cerebellar atrophy Scoliosis Gait ataxia Abnormal pyramidal sign Neurodegeneration Cognitive impairment Nystagmus Dementia Pes cavus Hyperreflexia Peripheral neuropathy Mental deterioration Optic atrophy Encephalopathy Gait disturbance Cerebral atrophy Muscular hypotonia of the trunk Depressivity Sleep disturbance Neuronal loss in central nervous system Hearing impairment Paraplegia Skeletal muscle atrophy Rod-cone dystrophy Spastic paraplegia Gaze-evoked nystagmus Anxiety Abnormal cerebellum morphology Distal amyotrophy Impaired vibratory sensation Hypothyroidism Lower limb hyperreflexia Seizures Impaired vibration sensation in the lower limbs Urinary bladder sphincter dysfunction Muscular hypotonia Myoclonus Visual impairment Postural tremor Limb dystonia Absent speech Postnatal microcephaly Abnormality of the eye Irritability Abnormality of eye movement

Rare Symptoms - Less than 30% cases

Torsion dystonia Supranuclear ophthalmoplegia Spinocerebellar tract degeneration Olivopontocerebellar atrophy Visual loss Dilated fourth ventricle Abnormality of metabolism/homeostasis Hypometric saccades Dysmetric saccades Microcephaly Downbeat nystagmus Poor coordination Impaired horizontal smooth pursuit Micrognathia Palatal myoclonus Gliosis Dysphagia Paresis of extensor muscles of the big toe Abnormality of the substantia nigra Transient hyperphenylalaninemia Decreased CSF homovanillic acid EEG abnormality Spinal muscular atrophy Postural instability External ophthalmoplegia Resting tremor Progressive cerebellar ataxia Progressive neurologic deterioration Limb ataxia Diplopia Fasciculations Confusion Truncal ataxia Difficulty walking Ophthalmoplegia Motor delay Drooling Tetraplegia Spastic tetraplegia Choreoathetosis Hallucinations Nevus Dysarthria Sensory neuropathy Progressive flexion contractures Focal dystonia Generalized dystonia Dyskinesia Small hand Areflexia Morphological abnormality of the pyramidal tract Cerebral palsy Involuntary movements Chorea Abnormality of movement Sensorimotor neuropathy Pneumonia Constipation Hypertonia Oromandibular dystonia Hypomimic face Ankle clonus Developmental regression Spastic gait Unsteady gait Fatigue Obsessive-compulsive behavior Talipes equinovarus Horizontal nystagmus Upper motor neuron dysfunction Torticollis Rheumatoid arthritis Brisk reflexes Hypertension Strabismus Tongue fasciculations Juvenile cataract Progressive spastic paraparesis EMG: chronic denervation signs Fever Corpus callosum atrophy Lewy bodies Chronic pain Myokymia Mania Degeneration of the lateral corticospinal tracts Low back pain Urinary retention Restless legs Cerebral cortical atrophy Spastic dysarthria Amyotrophic lateral sclerosis Abnormal autonomic nervous system physiology Back pain Ophthalmoparesis Akinesia Hypothalamic hypothyroidism Autoamputation of digits Decreased number of peripheral myelinated nerve fibers Absent Achilles reflex Atrophy/Degeneration affecting the brainstem Autoamputation Cerebellar cortical atrophy Progressive external ophthalmoplegia Delusions Facial-lingual fasciculations Spinal deformities Delirium Growth delay Abnormal electrooculogram Spastic paraparesis Genu valgum Generalized muscle weakness Apraxia Abnormality of the cerebral white matter Psychosis Short nose Clumsiness Paraparesis Progressive spasticity Frontal bossing Restlessness Facial hypotonia Macroorchidism Bruxism Shuffling gait Paralysis Slender build Excessive salivation Generalized myoclonic seizures Macrotia Prominent forehead Muscle cramps Gangrene Abnormality of visual evoked potentials Keratoconjunctivitis sicca Diabetes insipidus Cataract High palate Delayed speech and language development Macrocephaly Intellectual disability, severe Tetraparesis Abnormality of the dentition Epiphora Keratitis Intellectual disability, mild Kyphosis Poor suck Decreased nerve conduction velocity Severe muscular hypotonia Short neck Hyperlordosis Polyneuropathy Upper limb spasticity Sensory impairment Lower limb spasticity Clonus Urinary urgency Varicose veins Distal lower limb amyotrophy Areflexia of lower limbs Knee clonus Distal sensory impairment Ankle weakness Failure to thrive Blindness Brain atrophy Progressive visual loss Progressive microcephaly Macular degeneration Global brain atrophy Urinary incontinence Peripheral axonal neuropathy Peripheral visual field loss Hyperkinesis Abnormality of the liver Polycythemia Limb joint contracture Feeding difficulties Gastroesophageal reflux Recurrent pneumonia Delayed gross motor development Hypokinesia Paresthesia Limb hypertonia Orofacial dyskinesia Oculogyric crisis Ocular flutter Abnormality of carboxylic acid metabolism Intellectual disability, moderate Limb muscle weakness Lower limb muscle weakness Muscle fibrillation Loss of speech Leukemia Dysdiadochokinesis Retinopathy Dysmetria Retinal degeneration Pigmentary retinopathy Broad-based gait Oculomotor apraxia Poor head control Action tremor Apnea Slow saccadic eye movements Pontocerebellar atrophy Hypopnea Central nervous system degeneration Pain Ptosis Diabetes mellitus Proptosis Pallor Neonatal hypotonia Progressive encephalopathy Behavioral abnormality 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 Dysphonia Hyporeflexia Spastic diplegia Hyperactive deep tendon reflexes Parkinsonism with favorable response to dopaminergic medication Writer's cramp Axial dystonia Infantile encephalopathy Obsessive-compulsive trait Fixed facial expression Cerebellar gliosis


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