Flexion contracture, and Tremor

Diseases related with Flexion contracture and Tremor

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

Top matches:

EPILEPSY, FAMILIAL ADULT MYOCLONIC, 6; FAME6 Is also known as cortical myoclonic tremor with epilepsy, familial, 6|benign adult familial myoclonic epilepsy 6|fcmte6|bafme6

Related symptoms:

  • Seizures
  • Tremor


SOURCES: OMIM MENDELIAN

More info about EPILEPSY, FAMILIAL ADULT MYOCLONIC, 6; FAME6

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 42; EIEE42

Amish nemaline myopathy is a type of nemaline myopathy (NM; see this term) only observed in several families of the Amish community.

AMISH NEMALINE MYOPATHY Is also known as amish nemaline myopathy|anm|nemaline myopathy, amish type

Related symptoms:

  • Intellectual disability
  • Flexion contracture
  • Motor delay
  • Skeletal muscle atrophy
  • Tremor


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about AMISH NEMALINE MYOPATHY

Other less relevant matches:

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

Spinocerebellar ataxia type 14 (SCA14) is a rare mild subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by slowly progressive ataxia, dysarthria and nystagmus.

SPINOCEREBELLAR ATAXIA TYPE 14 Is also known as sca14

Related symptoms:

  • Generalized hypotonia
  • Cognitive impairment
  • Dysarthria
  • Tremor
  • Myoclonus


SOURCES: ORPHANET MENDELIAN

More info about SPINOCEREBELLAR ATAXIA TYPE 14

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

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

general increase in bulk of a muscle due to an increase in cell volume; it is not due to tumor formation, nor to an increase in the number of cells.

Related symptoms:

  • Myoclonus
  • Skeletal muscle hypertrophy


SOURCES: OMIM ORPHANET MENDELIAN

More info about MYOSTATIN-RELATED MUSCLE HYPERTROPHY

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

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about NEURODEVELOPMENTAL DISORDER WITH SPASTICITY AND POOR GROWTH; NEDSG

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

Symptoms // Phenotype % cases
Seizures Uncommon - Between 30% and 50% cases
Intellectual disability Uncommon - Between 30% and 50% cases
Generalized hypotonia Uncommon - Between 30% and 50% cases
Spasticity Uncommon - Between 30% and 50% cases
Hyperreflexia Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Cognitive impairment Rigidity Dysarthria Babinski sign Global developmental delay Skeletal muscle atrophy Gait ataxia Peripheral neuropathy

Rare Symptoms - Less than 30% cases

Gait disturbance Progressive cerebellar ataxia Focal dystonia Peripheral axonal neuropathy Sensory impairment Myoclonus Delayed speech and language development Dystonia Abnormality of the cerebral white matter Feeding difficulties Muscle weakness Motor delay Ataxia Nystagmus Hypertonia EEG abnormality Abnormality of eye movement Grasp reflex Intention tremor Blepharospasm Bipolar affective disorder Abnormality of the musculature Multiple joint contractures Abnormality of the voice Torticollis Clonus Abnormality of movement Oculomotor apraxia Involuntary movements Action tremor Hyperlordosis Facial palsy Depressivity Kyphosis Dysphagia Muscular hypotonia Scoliosis Sensory ataxia Generalized dystonia Absent Achilles reflex Delayed myelination Abnormal facial shape Hydranencephaly Cogwheel rigidity Limb dystonia Infantile spasms Lissencephaly Lower limb spasticity Short palpebral fissure Triangular face Wide mouth Intellectual disability, moderate Microcephaly Hypertelorism Stuttering Slurred speech Growth delay Failure to thrive Absent speech Skeletal muscle hypertrophy Craniofacial dystonia Constipation Abnormal posturing Writer's cramp Oromandibular dystonia Torsion dystonia Muscular hypotonia of the trunk Episodic ataxia Cerebellar vermis atrophy Leukoencephalopathy Pectus carinatum Decreased hip abduction Abnormality of the rib cage Type 1 muscle fiber predominance Nemaline bodies Proximal amyotrophy Hip contracture Delayed gross motor development EMG: myopathic abnormalities Respiratory insufficiency due to muscle weakness Hypocalcemia Progressive muscle weakness Neonatal hypotonia Hypoplasia of the corpus callosum Hypoglycemia Myopathy Respiratory insufficiency Alternating esotropia Limb hypertonia Athetosis Status epilepticus Epileptic encephalopathy Esotropia Generalized myoclonic seizures Abnormality of the eye Shoulder flexion contracture Areflexia Truncal ataxia Limb ataxia Clumsiness Progressive neurologic deterioration Unsteady gait Poor speech Mental deterioration Hyporeflexia Fever Abnormality of the Achilles tendon Saccadic smooth pursuit Hyporeflexia of lower limbs Gaze-evoked nystagmus Ankle contracture Pes cavus Sensory axonal neuropathy Abnormality of the hand Foot dorsiflexor weakness Sensorimotor neuropathy Fasciculations Distal sensory impairment Distal amyotrophy Lower limb muscle weakness Abnormality of the foot Limb muscle weakness Proximal muscle weakness Kyphoscoliosis Poor head control


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