Flexion contracture, and Bradykinesia

Diseases related with Flexion contracture and Bradykinesia

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


Top matches:

Low match DYSTONIA-PARKINSONISM-HYPERMANGANESEMIA SYNDROME


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

Low match INFANTILE DYSTONIA-PARKINSONISM


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

Low match AUTOSOMAL DOMINANT DOPA-RESPONSIVE DYSTONIA


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

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Other less relevant matches:

Low match DYSTONIA, DOPA-RESPONSIVE; DRD


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

Low match CHILDHOOD-ONSET NEMALINE MYOPATHY


Childhood onset nemaline myopathy, or mild nemaline myopathy is a type of nemaline myopathy (NM; see this terms) characterized by distal muscle weakness, and sometimes slowness of muscle contraction.

CHILDHOOD-ONSET NEMALINE MYOPATHY Is also known as mild nemaline myopathy

Related symptoms:

  • Generalized hypotonia
  • Scoliosis
  • Hypertelorism
  • Micrognathia
  • Ptosis


SOURCES: ORPHANET MENDELIAN

More info about CHILDHOOD-ONSET NEMALINE MYOPATHY

Low match SPINOCEREBELLAR ATAXIA 2; SCA2


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

Low match MACHADO-JOSEPH DISEASE; MJD


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

Low match CONGENITAL MUSCULAR DYSTROPHY TYPE 1A


Congenital muscular dystrophy type 1A (MCD1A) belongs to a group of neuromuscular disorders with onset at birth or infancy characterized by hypotonia, muscle weakness and muscle wasting.

CONGENITAL MUSCULAR DYSTROPHY TYPE 1A Is also known as muscular dystrophy, congenital merosin-deficient|cmd1a|merosin-negative congenital muscular dystrophy|mdc1a|congenital muscular dystrophy due to laminin alpha2 deficiency

Related symptoms:

  • Intellectual disability
  • Seizures
  • Generalized hypotonia
  • Scoliosis
  • Muscle weakness


SOURCES: OMIM ORPHANET MENDELIAN

More info about CONGENITAL MUSCULAR DYSTROPHY TYPE 1A

Low match INTELLECTUAL DISABILITY-CATARACTS-CALCIFIED PINNAE-MYOPATHY SYNDROME


Intellectual disability-cataracts-calcified pinnae-myopathy syndrome is a rare, genetic intellectual disability syndrome characterized by macrocephaly, hypotonia, dysmorphic facial features (wide forehead, ptosis, downslanting palpebral fissures, enlarged and calcified external ears, large jaw), sparse body hair, tall stature, and intellectual disability. Hearing loss, insulin-resistant diabetes, and progressive distal muscle wasting (leading to joint contractures) have also been reported in adulthood. Rare manifestations include behavioral abnormalities (aggression and restlessness), hypothyroidism, cerebral calcification, ataxia, and peripheral neuropathy.

INTELLECTUAL DISABILITY-CATARACTS-CALCIFIED PINNAE-MYOPATHY SYNDROME Is also known as primrose syndrome|ossified ear cartilages with mental deficiency, muscle wasting, and bony changes

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about INTELLECTUAL DISABILITY-CATARACTS-CALCIFIED PINNAE-MYOPATHY SYNDROME

Low match SEVERE X-LINKED MITOCHONDRIAL ENCEPHALOMYOPATHY


Severe X-linked mitochondrial encephalomyopathy is an extremely rare mitochondrial respiratory chain disease resulting in a neurodegenerative disorder characterized by psychomotor delay, hypotonia, areflexia, muscle weakness and wasting in the two patients reported to date.

SEVERE X-LINKED MITOCHONDRIAL ENCEPHALOMYOPATHY Is also known as mitochondrial encephalomyopathy due to coxpd6|mitochondrial encephalomyopathy due to combined oxidative phosphorylation defect 6|encephalomyopathy, mitochondrial, x-linked

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Muscle weakness
  • Delayed speech and language development


SOURCES: ORPHANET OMIM MENDELIAN

More info about SEVERE X-LINKED MITOCHONDRIAL ENCEPHALOMYOPATHY

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

Symptoms // Phenotype % cases
Generalized hypotonia Common - Between 50% and 80% cases
Scoliosis Common - Between 50% and 80% cases
Parkinsonism Common - Between 50% and 80% cases
Intellectual disability Uncommon - Between 30% and 50% cases
Skeletal muscle atrophy Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Gait ataxia Tremor Dystonia Global developmental delay Rigidity Babinski sign Motor delay Ataxia Abnormal pyramidal sign Pes cavus Abnormality of extrapyramidal motor function Areflexia Peripheral neuropathy Cognitive impairment Spasticity Gait disturbance Ptosis Cerebellar atrophy Hypokinesia Limb dystonia Gaze-evoked nystagmus Ophthalmoplegia Hearing impairment Dysphagia Postural tremor Neurodegeneration Depressivity Hypothyroidism Anxiety Sleep disturbance Respiratory insufficiency due to muscle weakness Distal amyotrophy Involuntary movements Seizures Difficulty walking Neuronal loss in central nervous system Fasciculations Hypertonia Nystagmus Hyporeflexia Developmental regression Abnormality of the eye Abnormal cerebellum morphology Irritability Abnormality of eye movement

Rare Symptoms - Less than 30% cases


Intellectual disability, severe Polyneuropathy Muscular hypotonia Increased variability in muscle fiber diameter Visual impairment Micrognathia Muscle weakness Tongue fasciculations Respiratory insufficiency Myopathy Cardiomyopathy Narrow chest Respiratory distress Impaired horizontal smooth pursuit Dysarthria Diplopia Urinary bladder sphincter dysfunction Poor coordination Impaired vibratory sensation Spinal muscular atrophy Dilated fourth ventricle Hypometric saccades Dysmetric saccades External ophthalmoplegia Pontocerebellar atrophy Truncal ataxia Limb ataxia Optic atrophy Supranuclear ophthalmoplegia Nevus Progressive cerebellar ataxia Postural instability Sensory neuropathy Downbeat nystagmus Palatal myoclonus Diabetes mellitus Neonatal hypotonia Myoclonus Dementia Torsion dystonia Olivopontocerebellar atrophy Resting tremor Increased connective tissue Talipes equinovarus Dyskinesia Progressive flexion contractures Focal dystonia Generalized dystonia Chorea Cerebral palsy Hypertension Decreased CSF homovanillic acid Fatigue Impaired vibration sensation in the lower limbs Lower limb hyperreflexia Brisk reflexes Obsessive-compulsive behavior Rheumatoid arthritis Torticollis Gastroesophageal reflux Abnormality of movement Transient hyperphenylalaninemia Hypomimic face Cerebral atrophy Spinocerebellar tract degeneration Absent speech Muscular hypotonia of the trunk Ankle clonus Confusion Abnormality of the substantia nigra Feeding difficulties in infancy Horizontal nystagmus Hyperlordosis Behavioral abnormality Feeding difficulties Paresis of extensor muscles of the big toe Oromandibular dystonia Conductive hearing impairment Hypoventilation Abnormality of visual evoked potentials Aggressive behavior Myopathic facies Osteopenia Weak cry Deeply set eye Protruding tongue Muscle fiber atrophy Cerebral edema Astrocytosis Atelectasis Abnormality of the periventricular white matter Abnormal cortical gyration Myositis Recurrent lower respiratory tract infections Reduced ejection fraction Autism Macrotia Macrocephaly Intercostal muscle weakness Abnormal brainstem MRI signal intensity Absent muscle fiber merosin Highly elevated creatine phosphokinase Short stature Neoplasm Inferior vermis hypoplasia Increased endomysial connective tissue Impaired mastication Diffuse white matter abnormalities Abnormal facial shape Cataract Cryptorchidism Anemia Downslanted palpebral fissures Narrow mouth Midface retrusion Abnormality of the temporomandibular joint Brachycephaly Hypogonadism Osteoporosis Agenesis of corpus callosum Pectus excavatum Microphthalmia Abnormality of the skeletal system Malar flattening Kyphosis Intellectual disability, mild Hydrocephalus Hypoplasia of the corpus callosum Anteverted nares Hypointensity of cerebral white matter on MRI Melanocytic nevus Protruding ear Recurrent ear infections Basilar impression Absent axillary hair Posterior polar cataract Abnormal glucose tolerance Narrow iliac wings Ectopic calcification Bone cyst Torus palatinus Generalized osteoporosis Tics Dystrophic fingernails Broad face Progressive gait ataxia Thoracic kyphosis Irregular vertebral endplates Motor tics Posterior scalloping of vertebral bodies Restlessness Ragged-red muscle fibers Increased serum pyruvate Abnormality of the basal ganglia Moderate global developmental delay Increased CSF lactate Central hypotonia Sensory axonal neuropathy Severe muscular hypotonia Absent facial hair Increased serum lactate Tetraplegia Generalized muscle weakness Delayed speech and language development Superiorly displaced ears Calcification of the auricular cartilage Increased size of the mandible Insulin-resistant diabetes mellitus Striae distensae Prominent nasal bridge Hip dysplasia Gynecomastia Thickened skin Abnormal form of the vertebral bodies Sparse scalp hair Thick lower lip vermilion Cerebral calcification Otitis media Hypergonadotropic hypogonadism Hypoplasia of the maxilla Downturned corners of mouth Short distal phalanx of finger Genu valgum Synophrys Congenital cataract Broad forehead Clonus Paraparesis Hip contracture Metatarsus adductus Congenital hypothyroidism Sparse body hair Basal ganglia calcification Mixed hearing impairment Truncal obesity Anonychia Bilateral cryptorchidism Knee flexion contracture Limb-girdle muscular dystrophy Self-injurious behavior Schizophrenia Abnormal palate morphology Plagiocephaly Osteolysis Spastic paraparesis Congenital muscular dystrophy Pain Focal impaired awareness seizure Fetal akinesia sequence Limb muscle weakness Long face Waddling gait Clumsiness Narrow face Muscle stiffness Exercise intolerance Scapular winging EMG: myopathic abnormalities Mildly elevated creatine phosphokinase Spinal rigidity Neck muscle weakness Facial diplegia Bulbar signs Polyhydramnios Nemaline bodies Type 1 muscle fiber predominance Breech presentation Slender build Poor fine motor coordination Reduced vital capacity Generalized limb muscle atrophy Increased muscle lipid content Fatigable weakness of bulbar muscles Neuromuscular dysphagia Rod-cone dystrophy Mental deterioration Apnea Pallor Arthrogryposis multiplex congenita High palate Dysmetria Ocular flutter Abnormality of the liver Postnatal microcephaly Polycythemia Limb joint contracture Constipation Pneumonia Recurrent pneumonia Delayed gross motor development Hyperkinesis Limb hypertonia Morphological abnormality of the pyramidal tract Orofacial dyskinesia Oculogyric crisis Abnormality of carboxylic acid metabolism Hypertelorism Hyperreflexia Encephalopathy Spastic paraplegia Paraplegia Dysphonia Spastic diplegia Hyperactive deep tendon reflexes Upper motor neuron dysfunction Parkinsonism with favorable response to dopaminergic medication Writer's cramp Axial dystonia Infantile encephalopathy Obsessive-compulsive trait Fixed facial expression Retinopathy Retinal degeneration Poor suck Abnormality of the cerebral white matter Ventriculomegaly Dilatation Abnormality of metabolism/homeostasis Arrhythmia Elevated serum creatine phosphokinase Cerebellar hypoplasia Respiratory failure Kyphoscoliosis Intellectual disability, moderate Facial palsy Paralysis Hip dislocation Muscular dystrophy Polymicrogyria Facial-lingual fasciculations Inability to walk Macroglossia Focal-onset seizure Pulmonary arterial hypertension Open mouth Pachygyria Heterotopia Decreased body weight Progressive muscle weakness Sensorimotor neuropathy Aspiration Congenital hip dislocation Absence seizures Lissencephaly Abnormal electrooculogram Delirium Pigmentary retinopathy Gliosis Progressive neurologic deterioration Broad-based gait Oculomotor apraxia Drooling Poor head control Dysdiadochokinesis Action tremor Slow saccadic eye movements Hypopnea Central nervous system degeneration Proptosis Leukemia Unsteady gait Muscle cramps Hallucinations Restless legs Abnormal autonomic nervous system physiology Back pain Ophthalmoparesis Akinesia Amyotrophic lateral sclerosis Decreased number of peripheral myelinated nerve fibers Atrophy/Degeneration affecting the brainstem Progressive external ophthalmoplegia Delusions Absent Achilles reflex Spastic dysarthria Myokymia Low back pain Chronic pain Abnormal corpus striatum morphology



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Abnormality of the skeletal system and Abnormal cardiac septum morphology, related diseases and genetic alterations Fever and Abnormality of the genital system, related diseases and genetic alterations Visual impairment and Ventricular hypertrophy, related diseases and genetic alterations Low-set ears and Abnormality of mitochondrial metabolism, related diseases and genetic alterations

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