Flexion contracture, and Dystonia

Diseases related with Flexion contracture and Dystonia

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

Top matches:

PCH2D is an autosomal recessive disorder characterized by progressive microcephaly, postnatal onset of progressive atrophy of the cerebrum and cerebellum, profound mental retardation, spasticity, and variable seizures (summary by Ben-Zeev et al., 2003).For a general phenotypic description and a discussion of genetic heterogeneity of pontocerebellar hypoplasia type 2, see PCH2A (OMIM ).

PONTOCEREBELLAR HYPOPLASIA, TYPE 2D; PCH2D Is also known as pcca|cerebellocerebral atrophy, progressive

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Microcephaly
  • Ataxia


SOURCES: OMIM MENDELIAN

More info about PONTOCEREBELLAR HYPOPLASIA, TYPE 2D; PCH2D

Spastic paraplegia-optic atrophy-neuropathy (SPOAN) syndrome is a rare, complex type of hereditary spastic paraplegia characterized by early-onset progressive spastic paraplegia presenting in infancy, associated with optic atrophy, fixation nystagmus, polyneuropathy occurring in late childhood/early adolescence leading to severe motor disability and progressive joint contractures and scoliosis. SPOAN syndrome is caused by mutations in the KLC2 gene (11q13.1), encoding kinesin light chain 2.

SPASTIC PARAPLEGIA-OPTIC ATROPHY-NEUROPATHY SYNDROME Is also known as spoan|spg68|autosomal recessive spastic paraplegia type 68

Related symptoms:

  • Global developmental delay
  • Scoliosis
  • Ataxia
  • Nystagmus
  • Pain


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about SPASTIC PARAPLEGIA-OPTIC ATROPHY-NEUROPATHY SYNDROME

Early onset torsion dystonia (EOTD) is a rare movement disorder characterized by involuntary, repetitive, sustained muscle contractions or postures involving one or more sites of the body.

EARLY-ONSET GENERALIZED LIMB-ONSET DYSTONIA Is also known as eotd|dystonia musculorum deformans 1|early-onset primary dystonia|dyt1|dystonia musculorum deformans|idiopathic torsion dystonia|early-onset generalized torsion dystonia|idiopathic dystonia|oppenheim dystonia|early-onset torsion dystonia

Related symptoms:

  • Generalized hypotonia
  • Scoliosis
  • Muscular hypotonia
  • Flexion contracture
  • Peripheral neuropathy


SOURCES: ORPHANET OMIM MENDELIAN

More info about EARLY-ONSET GENERALIZED LIMB-ONSET DYSTONIA

Other less relevant matches:

X-linked reticulate pigmentary disorder is an extremely rare skin disease described in only four families to date and characterized in males by diffuse reticulate brown hyperpigmentated skin lesions developing in early childhood and a variety of systemic manifestations (recurrent pneumonia, corneal opacification, gastrointestinal inflammation, urethral stricture, failure to thrive, hypohidrosis, digital clubbing, and unruly hair and flared eyebrows), while in females, there is only cutaneous involvement with the development in early childhood of localized brown hyperpigmented skin lesions following the lines of Blaschko. This disease was first considered as a cutaneous amyloidosis, but amyloid deposits are an inconstant feature.

X-LINKED RETICULATE PIGMENTARY DISORDER Is also known as familial cutaneous amyloidosis|mental retardation, x-linked, with dystonic movements, ataxia, and seizures|pdr|mental retardation, x-linked, syndromic 1|x-linked cutaneous amyloidosis|xlpdr|mrx36|partington syndrome|partington disease|mrxs1|mental retarda

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Hypertelorism
  • Abnormal facial shape


SOURCES: ORPHANET OMIM MENDELIAN

More info about X-LINKED RETICULATE PIGMENTARY DISORDER

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

LEUKODYSTROPHY, HYPOMYELINATING, 2; HLD2 Is also known as pelizaeus-merzbacher-like disease, 1|pmld1

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about LEUKODYSTROPHY, HYPOMYELINATING, 2; HLD2

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

Spastic paraplegia-47 is an autosomal recessive neurodegenerative disorder characterized by neonatal hypotonia that progresses to hypertonia and spasticity and severe mental retardation with poor or absent speech development (summary by Abou Jamra et al., 2011).

SPASTIC PARAPLEGIA 47, AUTOSOMAL RECESSIVE; SPG47 Is also known as cpsq5, formerly|cerebral palsy, spastic quadriplegic, 5, formerly

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about SPASTIC PARAPLEGIA 47, AUTOSOMAL RECESSIVE; SPG47

Pontocerebellar hypoplasia (PCH) represents a heterogeneous group of disorders characterized by an abnormally small cerebellum and brainstem. PCH type 2 is characterized by progressive microcephaly from birth combined with extrapyramidal dyskinesia and chorea, epilepsy, and normal spinal cord findings (Barth, 1993).For a phenotypic description and a discussion of genetic heterogeneity of PCH, see PCH1 (OMIM ). Genetic Heterogeneity of Pontocerebellar Hypoplasia Type 2PCH2B (OMIM ) is caused by mutation in the TSEN2 gene (OMIM ) on chromosome 3p25, and PCH2C (OMIM ) is caused by mutation in the TSEN34 gene (OMIM ) on chromosome 19q13. PCH2D (OMIM ) is caused by mutation in the SEPSECS gene (OMIM ) on chromosome 4p15. PCH2E (OMIM ) is caused by mutation in the VPS53 gene (OMIM ) on chromosome 17p13. PCH2F (OMIM ) is caused by mutation in the TSEN15 gene (OMIM ) on chromosome 1q25. The TSEN2 and TSEN34 genes encode catalytic subunits of the tRNA splicing endonuclease, whereas the TSEN54 gene encodes a noncatalytic subunit. The SEPSECS gene is also involved in tRNA processing.

PONTOCEREBELLAR HYPOPLASIA, TYPE 2A; PCH2A Is also known as pch2|volendam neurodegenerative disease|pontocerebellar hypoplasia with progressive cerebral atrophy

Related symptoms:

  • Seizures
  • Microcephaly
  • Failure to thrive
  • Flexion contracture
  • Feeding difficulties


SOURCES: OMIM MENDELIAN

More info about PONTOCEREBELLAR HYPOPLASIA, TYPE 2A; PCH2A

AMYOTROPHIC LATERAL SCLEROSIS 2, JUVENILE; ALS2 Is also known as alsj|als, juvenile

Related symptoms:

  • Global developmental delay
  • Microcephaly
  • Ataxia
  • Nystagmus
  • Muscle weakness


SOURCES: OMIM MESH MENDELIAN

More info about AMYOTROPHIC LATERAL SCLEROSIS 2, JUVENILE; ALS2

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

Symptoms // Phenotype % cases
Global developmental delay Common - Between 50% and 80% cases
Dysarthria Common - Between 50% and 80% cases
Spasticity Common - Between 50% and 80% cases
Babinski sign Uncommon - Between 30% and 50% cases
Generalized hypotonia Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Hypertonia Seizures Cognitive impairment Intellectual disability Tremor Cerebral atrophy Rigidity Ataxia Microcephaly Peripheral neuropathy Feeding difficulties Optic atrophy Nystagmus Scoliosis Abnormality of the periventricular white matter Absent speech Progressive spasticity Clonus Muscular hypotonia of the trunk Chorea Dyskinesia Irritability Hyperreflexia

Rare Symptoms - Less than 30% cases

Dysphagia Generalized dystonia Gait disturbance Abnormality of movement Involuntary movements Intellectual disability, moderate Focal dystonia Oromandibular dystonia Opisthotonus Abnormal facial shape Delayed speech and language development Wide mouth Lower limb spasticity Limb dystonia Parkinsonism Bradykinesia Hypomimic face Muscular hypotonia Facial palsy Multiple joint contractures Distal amyotrophy Progressive microcephaly Spastic tetraplegia Limb joint contracture Motor delay Skeletal muscle atrophy Cerebellar atrophy Kyphosis Hypoplasia of the corpus callosum Difficulty walking Spastic paraplegia Paraplegia Postnatal microcephaly Sensory neuropathy Delayed gross motor development Sensory axonal neuropathy Pes planus Wide nasal bridge Visual impairment Failure to thrive Orofacial dyskinesia Retrocollis Oculogyric crisis Pseudobulbar behavioral symptoms Ocular flutter Everted upper lip vermilion Spasticity of facial muscles Abnormality of carboxylic acid metabolism Short stature Acetabular dysplasia High palate Excessive salivation Facial hypotonia Ventriculomegaly Intellectual disability, severe Genu recurvatum Protruding tongue Open mouth Narrow forehead Febrile seizures Waddling gait Cerebellar hypoplasia Inability to walk Bulbous nose Coarse facial features Talipes equinovarus Short philtrum Neonatal hypotonia Tetraplegia Severe global developmental delay Myoclonus Pseudobulbar paralysis Paralysis Tetraparesis Limb hypertonia Abnormal upper motor neuron morphology Spastic gait Anarthria Upper limb spasticity Cerebellar hemisphere hypoplasia Fasciculations Spastic tetraparesis Drooling Toe walking Amyotrophic lateral sclerosis Mild microcephaly Abnormal lower motor neuron morphology Muscle weakness Hypoplasia of the ventral pons Cerebral cortical atrophy Gliosis Polyhydramnios Feeding difficulties in infancy Spastic dysarthria Difficulty in tongue movements Abnormality of the cerebral white matter Pseudobulbar signs Cerebellar vermis hypoplasia Extrapyramidal dyskinesia Poor suck Hand muscle atrophy Restlessness Tip-toe gait Impaired smooth pursuit Hypoplasia of the pons EMG: chronic denervation signs Morphological abnormality of the pyramidal tract Developmental regression Hypokinesia Bipolar affective disorder Hyperreflexia proximally Depressivity Hyperlordosis Torticollis Abnormality of the voice Abnormality of the musculature Blepharospasm Hyporeflexia of lower limbs Action tremor Absent Achilles reflex Torsion dystonia Writer's cramp Abnormal posturing Craniofacial dystonia Exaggerated startle response Distal lower limb amyotrophy EEG abnormality Pes cavus Sleep disturbance Delayed myelination Intellectual disability, profound Cerebellar vermis atrophy Pain Hyporeflexia Hyperhidrosis Motor axonal neuropathy Peripheral axonal neuropathy Optic disc pallor Abnormality of extrapyramidal motor function Sensorimotor neuropathy Progressive spastic paraplegia Decreased number of peripheral myelinated nerve fibers Impaired vibration sensation in the lower limbs Hypertelorism Triangular face Hyperkinesis Constipation Congenital nystagmus Pendular nystagmus Rotary nystagmus Cerebral hypomyelination Head titubation Demyelinating motor neuropathy Pneumonia CNS hypomyelination Gastroesophageal reflux Abnormality of the eye Abnormal pyramidal sign Abnormality of eye movement Recurrent pneumonia Cerebral palsy Decreased motor nerve conduction velocity Spastic paraparesis Short palpebral fissure Abnormality of the liver Lissencephaly Infantile spasms Cogwheel rigidity Hydranencephaly Stuttering Grasp reflex Neuronal loss in central nervous system Leukodystrophy Ankle clonus Polycythemia Myopia Poor speech Peripheral demyelination Intention tremor Choreoathetosis Spasticity of pharyngeal muscles


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