Flexion contracture, and Dysarthria

Diseases related with Flexion contracture and Dysarthria

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

Top matches:

Progressive polyneuropathy with bilateral striatal necrosis is a rare, genetic disorder of thiamine metabolism and transport characterized by the childhood-onset of recurrent episodes of flaccid paralysis and encephalopathy, associated with bilateral striatal necrosis and chronic progressive axonal polyneuropathy with proximal and distal muscle weakness, areflexia, contractures and foot deformities.

PROGRESSIVE POLYNEUROPATHY WITH BILATERAL STRIATAL NECROSIS Is also known as striatal necrosis, bilateral, and progressive polyneuropathy|bilateral striatal degeneration and progressive polyneuropathy

Related symptoms:

  • Muscle weakness
  • Flexion contracture
  • Peripheral neuropathy
  • Dysarthria
  • Skeletal muscle atrophy


SOURCES: OMIM ORPHANET MENDELIAN

More info about PROGRESSIVE POLYNEUROPATHY WITH BILATERAL STRIATAL NECROSIS

Autosomal dominant limb-girdle muscular dystrophy type 1F (LGMD1F) is a subtype of autosomal dominant limb-girdle muscular dystrophy ,with a variable age of onset, characterized by progressive, proximal weakness and wasting of the shoulder and pelvic musculature (with the pelvic girdle, and especially the ileopsoas muscle, being more affected) and frequent association of calf hypertrophy, dysphagia, arachnodactyly with or without finger contractures and/or distal and axial muscle involvement. Additional features include an abnormal gait, exercise intolerance, myalgia, fatigue and respiratory insufficiency. Cardiac conduction defects are typically not observed.

AUTOSOMAL DOMINANT LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 1F Is also known as lgmd1f|muscular dystrophy, limb-girdle, type 1f

Related symptoms:

  • Muscle weakness
  • Flexion contracture
  • Dysarthria
  • Skeletal muscle atrophy
  • Respiratory insufficiency


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about AUTOSOMAL DOMINANT LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 1F

Congenital myasthenic syndrome-18 is an autosomal dominant presynaptic neuromuscular disorder characterized by early-onset muscle weakness and easy fatigability associated with delayed psychomotor development and ataxia (summary by Shen et al., 2014).For a discussion of genetic heterogeneity of CMS, see CMS1A (OMIM ).

MYASTHENIC SYNDROME, CONGENITAL, 18; CMS18 Is also known as myasthenic syndrome, congenital, 18, with intellectual disability and ataxia

Related symptoms:

  • Global developmental delay
  • Ataxia
  • Muscle weakness
  • Ptosis
  • Flexion contracture


SOURCES: OMIM MENDELIAN

More info about MYASTHENIC SYNDROME, CONGENITAL, 18; CMS18

Other less relevant matches:

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

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

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

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

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

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

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

Symptoms // Phenotype % cases
Skeletal muscle atrophy Common - Between 50% and 80% cases
Difficulty walking Common - Between 50% and 80% cases
Muscle weakness Uncommon - Between 30% and 50% cases
Generalized hypotonia Uncommon - Between 30% and 50% cases
Hyperreflexia Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Babinski sign Cognitive impairment Gait disturbance Gait ataxia Ataxia Hyporeflexia Peripheral neuropathy Spastic paraplegia Peripheral axonal neuropathy Areflexia Spasticity Scoliosis Paraplegia Multiple joint contractures Tremor Poor speech Nystagmus Global developmental delay

Rare Symptoms - Less than 30% cases

Dystonia Kyphosis Limb ataxia Optic disc pallor Pes cavus Cerebellar vermis atrophy Spastic gait Mental deterioration Distal amyotrophy Knee flexion contracture Hyporeflexia of lower limbs Rigidity Absent Achilles reflex Progressive cerebellar ataxia Gaze-evoked nystagmus Motor delay Intellectual disability Seizures Unsteady gait Pain Truncal ataxia Respiratory insufficiency Distal muscle weakness Hyperhidrosis Blepharospasm Abnormality of movement Involuntary movements Progressive neurologic deterioration Torticollis Abnormality of the cerebral white matter Abnormality of the voice Fever Abnormality of the musculature Bipolar affective disorder Generalized dystonia Leukoencephalopathy Action tremor Delayed speech and language development Functional motor deficit Rotary nystagmus Focal dystonia Torsion dystonia Oromandibular dystonia Dysdiadochokinesis Writer's cramp Incoordination Abnormal posturing Clumsiness Slurred speech Sensory neuropathy Distal lower limb amyotrophy Abnormality of extrapyramidal motor function Sensorimotor neuropathy Oculomotor apraxia Delayed gross motor development Sensory axonal neuropathy Progressive spastic paraplegia Decreased number of peripheral myelinated nerve fibers Impaired vibration sensation in the lower limbs Abnormality of the Achilles tendon Motor axonal neuropathy Exaggerated startle response Hyperlordosis Hyperreflexia proximally Muscular hypotonia Dysphagia Saccadic smooth pursuit Hypertonia Depressivity Facial palsy Sensory impairment Myoclonus Sensory ataxia Episodic ataxia Optic atrophy Thoracic scoliosis Horizontal nystagmus Pallor Shoulder girdle muscle weakness Difficulty running Centrally nucleated skeletal muscle fibers Rimmed vacuoles Spinal rigidity Calf muscle hypertrophy Limb-girdle muscular dystrophy EMG: myopathic abnormalities Ragged-red muscle fibers Respiratory insufficiency due to muscle weakness Scapular winging Muscular dystrophy Proximal muscle weakness Pelvic girdle muscle weakness Abnormality of metabolism/homeostasis Myopathy Contractures of the joints of the lower limbs Limb joint contracture Increased CSF lactate Frequent falls Polyneuropathy Falls Abnormality of the foot Lethargy Paralysis Encephalopathy Talipes equinovarus Increased connective tissue Autophagic vacuoles Apraxia Hyperactive patellar reflex Esotropia Brain atrophy Dysmetria Abnormality of eye movement Neurological speech impairment Cerebellar atrophy Absent patellar reflexes Tip-toe gait Lower limb pain Clonus Lower limb spasticity Abnormal cerebellum morphology Flexion contracture of finger Poor fine motor coordination Thenar muscle atrophy Ankle contracture Bulbar palsy Progressive spasticity Brisk reflexes Impaired vibratory sensation Spastic paraparesis Distal sensory impairment Visual loss Easy fatigability Decreased fetal movement EEG abnormality Ptosis Late-onset distal muscle weakness Craniofacial dystonia


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