Flexion contracture, and Babinski sign

Diseases related with Flexion contracture and Babinski sign

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


Top matches:

Low match AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 43


Autosomal recessive spastic paraplegia type 43 is a rare, complex hereditary spastic paraplegia characterized by a childhood to adolescent onset of progressive lower limb spasticity, associated with mild to severe gait disturbances, extensor plantar responses, muscle weakness and severe distal atrophy, frequently with upper limb involvement. Additional features may include joint contractures, distal sensory loss and brisk or absent deep tendon reflexes. Other signs, such as depression, memory loss, optic atrophy (with vision loss) and brain iron deposition (revealed by brain imagery), have also been reported.

AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 43 Is also known as spg43

Related symptoms:

  • Generalized hypotonia
  • Muscle weakness
  • Spasticity
  • Flexion contracture
  • Hyperreflexia


SOURCES: ORPHANET OMIM MENDELIAN

More info about AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 43

Low match AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 62


Autosomal recessive spastic paraplegia type 62 is a pure or complex form of hereditary spastic paraplegia characterized by an onset in the first decade of life of spastic paraperesis (more prominent in lower than upper extremities) and unsteady gait, as well as increased deep tendon reflexes, amyotrophy, cerebellar ataxia, and flexion contractures of the knees, in some.

AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 62 Is also known as spg62

Related symptoms:

  • Scoliosis
  • Pain
  • Spasticity
  • Flexion contracture
  • Hyperreflexia


SOURCES: ORPHANET OMIM MENDELIAN

More info about AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 62

Low match AUTOSOMAL RECESSIVE CONGENITAL CEREBELLAR ATAXIA DUE TO GRID2 DEFICIENCY


Autosomal recessive congenital cerebellar ataxia due to GRID2 deficiency is a rare, genetic, slowly progressive neurodegenerative disease resulting from GRID2 deficiency characterized by motor, speech and cognitive delay, hypotonia, truncal and appendicular ataxia, and eye movement abnormalities (tonic upgaze, nystagmus, oculomotor apraxia). Intention tremor may also be associated. Brain imaging reveals progressive cerebellar atrophy with cerebellar flocculus particularly affected.

AUTOSOMAL RECESSIVE CONGENITAL CEREBELLAR ATAXIA DUE TO GRID2 DEFICIENCY Is also known as autosomal recessive congenital cerebellar ataxia due to ionotropic glutamate receptor delta-2 subunit deficiency|scar18

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about AUTOSOMAL RECESSIVE CONGENITAL CEREBELLAR ATAXIA DUE TO GRID2 DEFICIENCY

Mendelian

Too many results?
We can help you with your rare disease diagnosis.

Learn more

Other less relevant matches:

Low match AUTOSOMAL RECESSIVE CHARCOT-MARIE-TOOTH DISEASE TYPE 2X


Charcot-Marie-Tooth disease type 2X (CMT2X) is an autosomal recessive, slowly progressive, axonal peripheral sensorimotor neuropathy characterized by lower limb muscle weakness and atrophy associated with distal sensory impairment and gait difficulties. Some patients also have involvement of the upper limbs. Onset usually occurs in the first 2 decades of life, although later onset can also occur (summary by Montecchiani et al., 2016)For a phenotypic description and a discussion of genetic heterogeneity of axonal CMT, see CMT2A1 (OMIM ).

AUTOSOMAL RECESSIVE CHARCOT-MARIE-TOOTH DISEASE TYPE 2X Is also known as autosomal recessive charcot-marie-tooth disease type 2 due to spg11 mutation|charcot-marie-tooth disease, axonal, autosomal recessive, type 2x|charcot-marie-tooth neuropathy, type 2x|cmt2x|arcmt2x

Related symptoms:

  • Muscle weakness
  • Spasticity
  • Cognitive impairment
  • Flexion contracture
  • Peripheral neuropathy


SOURCES: ORPHANET OMIM MENDELIAN

More info about AUTOSOMAL RECESSIVE CHARCOT-MARIE-TOOTH DISEASE TYPE 2X

Low match INHERITED CONGENITAL SPASTIC TETRAPLEGIA


Inherited congenital spastic tetraplegia is a rare, genetic, neurological disease characterized by non-progressive, variable spastic quadriparesis in multiple members of a family, in the absence of additional factors complicating pregnancy or birth (e.g. perinatal asphyxia, congenital infection). Additional clinical features include congenital hypotonia, intellectual disability, and developmental delay. Dysphagia, dysarthria, exotropia, nystagmus, seizures and brain atrophy with ventriculomegaly may be also present.

INHERITED CONGENITAL SPASTIC TETRAPLEGIA Is also known as spastic quadriplegic cerebral palsy|inherited congenital spastic quadriplegia

Related symptoms:

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


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about INHERITED CONGENITAL SPASTIC TETRAPLEGIA

Low match LEUKOENCEPHALOPATHY WITH BRAIN STEM AND SPINAL CORD INVOLVEMENT-HIGH LACTATE SYNDROME


This disease is characterised by progressive cerebellar ataxia with pyramidal and spinal cord dysfunction, associated with distinctive MRI anomalies and increased lactate in the abnormal white matter.

LEUKOENCEPHALOPATHY WITH BRAIN STEM AND SPINAL CORD INVOLVEMENT-HIGH LACTATE SYNDROME Is also known as mitochondrial aspartyl-trna synthetase deficiency|leukoencephalopathy with brain stem and spinal cord involvement-lactate elevation syndrome|lbsl

Related symptoms:

  • Intellectual disability
  • Seizures
  • Generalized hypotonia
  • Ataxia
  • Nystagmus


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about LEUKOENCEPHALOPATHY WITH BRAIN STEM AND SPINAL CORD INVOLVEMENT-HIGH LACTATE SYNDROME

Low match EARLY-ONSET GENERALIZED LIMB-ONSET DYSTONIA


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

Low match AUTOSOMAL DOMINANT CHARCOT-MARIE-TOOTH DISEASE TYPE 2Z


Charcot-Marie-Tooth disease type 2Z (CMT2Z) is an autosomal dominant peripheral neuropathy characterized by onset, usually in the first decade, of distal lower limb muscle weakness and sensory impairment. The disorder is progressive, and affected individuals tend to develop upper limb and proximal muscle involvement in an asymmetric pattern, resulting in severe disability late in adulthood (summary by Sevilla et al., 2016).For a phenotypic description and a discussion of genetic heterogeneity of axonal CMT, see CMT2A1 (OMIM ).

AUTOSOMAL DOMINANT CHARCOT-MARIE-TOOTH DISEASE TYPE 2Z Is also known as autosomal dominant charcot-marie-tooth disease type 2 due to morc2 mutation|cmt2z|charcot-marie-tooth disease, axonal, autosomal dominant, type 2z|charcot-marie-tooth neuropathy, type 2z

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment
  • Scoliosis
  • Muscle weakness


SOURCES: ORPHANET OMIM MENDELIAN

More info about AUTOSOMAL DOMINANT CHARCOT-MARIE-TOOTH DISEASE TYPE 2Z

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 KYPHOSCOLIOSIS-LATERAL TONGUE ATROPHY-HEREDITARY SPASTIC PARAPLEGIA SYNDROME


KYPHOSCOLIOSIS-LATERAL TONGUE ATROPHY-HEREDITARY SPASTIC PARAPLEGIA SYNDROME Is also known as kyphoscoliosis-lateral tongue atrophy-hsp syndrome

Related symptoms:

  • Intellectual disability
  • Pain
  • Dysphagia
  • Talipes equinovarus
  • Cerebellar atrophy


SOURCES: ORPHANET MENDELIAN

More info about KYPHOSCOLIOSIS-LATERAL TONGUE ATROPHY-HEREDITARY SPASTIC PARAPLEGIA SYNDROME

Top 5 symptoms//phenotypes associated to Flexion contracture and Babinski sign

Symptoms // Phenotype % cases
Spasticity Common - Between 50% and 80% cases
Generalized hypotonia Common - Between 50% and 80% cases
Hyperreflexia Common - Between 50% and 80% cases
Gait disturbance Common - Between 50% and 80% cases
Dysarthria Uncommon - Between 30% and 50% cases
Mendelian

Accelerate your rare disease diagnosis with us

Learn more

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Skeletal muscle atrophy Intellectual disability Scoliosis Muscle weakness Global developmental delay Peripheral neuropathy Tremor Cognitive impairment Difficulty walking Spastic paraplegia Peripheral axonal neuropathy Nystagmus Ataxia Seizures Pes cavus Areflexia Paraplegia Hypertonia Knee flexion contracture Distal sensory impairment Spastic gait Cerebellar atrophy

Rare Symptoms - Less than 30% cases


Foot dorsiflexor weakness Dysphagia Cerebral atrophy Muscle cramps Poor speech Unsteady gait Truncal ataxia Motor delay Sensorimotor neuropathy Kyphoscoliosis Proximal muscle weakness Abnormality of movement Limb muscle weakness Lower limb muscle weakness Dystonia Sensory impairment Fasciculations Oromandibular dystonia Sensory axonal neuropathy Gait ataxia Clonus Distal muscle weakness Distal amyotrophy Mental deterioration Hyporeflexia Brisk reflexes Absent Achilles reflex Pain Lower limb spasticity Ankle contracture Delayed gross motor development Difficulty standing Dysphonia Split hand Urinary incontinence Tongue atrophy Sensory neuropathy Abnormal pyramidal sign Hearing impairment Craniofacial dystonia Abnormal posturing Writer's cramp Torsion dystonia Lower limb amyotrophy Focal dystonia Action tremor Generalized dystonia Blepharospasm Bipolar affective disorder Proximal muscle weakness in upper limbs Abnormal levels of creatine kinase in blood Abnormality of the musculature Multiple joint contractures Abnormality of the voice Hammertoe High pitched voice Talipes equinovarus Lower limb hyperreflexia Limb joint contracture Hypomimic face Polycythemia Ankle clonus Postnatal microcephaly Bradykinesia Neuronal loss in central nervous system Parkinsonism Toe walking Abnormality of the liver Developmental regression Onion bulb formation Progressive spastic paraplegia Muscular hypotonia of the trunk Absent speech Visual loss Neck flexor weakness Difficulty running Involuntary movements Decreased number of large peripheral myelinated nerve fibers Myokymia Distal lower limb muscle weakness Torticollis Kyphosis Hyperlordosis Incoordination Flexion contracture of finger Abnormality of the foot Abnormal cerebellum morphology Hypoplasia of the corpus callosum Thoracic scoliosis Functional motor deficit Rotary nystagmus Cerebellar vermis atrophy Gaze-evoked nystagmus Dysdiadochokinesis Oculomotor apraxia Poor fine motor coordination Horizontal nystagmus Lower limb pain Limb ataxia Apraxia Optic disc pallor Esotropia Brain atrophy Tip-toe gait Dysmetria Absent patellar reflexes Abnormality of eye movement Hyperactive patellar reflex Bulbar palsy Facial palsy Abnormality of the cerebral white matter Rigidity Depressivity Neurological speech impairment Muscular hypotonia Sensory ataxia Episodic ataxia Slurred speech Leukoencephalopathy Clumsiness Progressive neurologic deterioration Progressive cerebellar ataxia Fever Abnormality of the hand Spastic paraparesis Delayed speech and language development Abnormality of brain morphology Spastic diplegia Cerebral palsy Spastic tetraplegia Impaired vibratory sensation Hip dislocation Intellectual disability, severe Microcephaly Progressive spasticity Upper limb amyotrophy



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Hepatomegaly and Dystonia, related diseases and genetic alterations Brachydactyly and Attention deficit hyperactivity disorder, related diseases and genetic alterations Depressed nasal bridge and Holoprosencephaly, related diseases and genetic alterations Obesity and Dystonia, related diseases and genetic alterations

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more