Flexion contracture, and Paralysis

Diseases related with Flexion contracture and Paralysis

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


Top matches:

Low match PROGRESSIVE POLYNEUROPATHY WITH BILATERAL STRIATAL NECROSIS


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

Low match CHARCOT-MARIE-TOOTH DISEASE, AXONAL, WITH VOCAL CORD PARESIS, AUTOSOMAL RECESSIVE


CHARCOT-MARIE-TOOTH DISEASE, AXONAL, WITH VOCAL CORD PARESIS, AUTOSOMAL RECESSIVE Is also known as cmt2 with vocal cord paresis, autosomal recessive|charcot-marie-tooth disease, type 4a, axonal form|charcot-marie-tooth neuropathy, axonal, with vocal cord paresis, autosomal recessive

Related symptoms:

  • Muscle weakness
  • Flexion contracture
  • Areflexia
  • Pes cavus
  • Paralysis


SOURCES: OMIM MENDELIAN

More info about CHARCOT-MARIE-TOOTH DISEASE, AXONAL, WITH VOCAL CORD PARESIS, AUTOSOMAL RECESSIVE

Low match CHARCOT-MARIE-TOOTH DISEASE TYPE 4J


Charcot-Marie-Tooth disease type 4J is a subtype of Charcot-Marie-Tooth disease type 4 characterized by childhood- to adulthood-onset of variably severe, rapidly progressive, axonal and demyelinating sensorimotor neuropathy typically manifesting with delayed motor development, proximal and distal asymmetric muscle weakness and atrophy of the lower and upper extremities, severe motor dysfunction with mildly reduced sensory impairment, and areflexia. Nerve conduction velocities range from very mildly to severely reduced.

CHARCOT-MARIE-TOOTH DISEASE TYPE 4J Is also known as charcot-marie-tooth disease, autosomal recessive, type 4j|cmt4j

Related symptoms:

  • Global developmental delay
  • Muscle weakness
  • Pain
  • Motor delay
  • Peripheral neuropathy


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about CHARCOT-MARIE-TOOTH DISEASE TYPE 4J

Mendelian

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

Learn more

Other less relevant matches:

Low match HORIZONTAL GAZE PALSY WITH PROGRESSIVE SCOLIOSIS


Horizontal gaze palsy with progressive scoliosis (HGPPS) is a rare congenital autosomal recessive disease, presenting in children and adolescents, and characterized by progressive scoliosis along with the absence of conjugate horizontal eye movements and associated with failure of the somatosensory and corticospinal neuronal tracts to decussate in the medulla.

HORIZONTAL GAZE PALSY WITH PROGRESSIVE SCOLIOSIS Is also known as progressive external ophthalmoplegia and scoliosis|hgpps

Related symptoms:

  • Seizures
  • Scoliosis
  • Nystagmus
  • Sensorineural hearing impairment
  • Cognitive impairment


SOURCES: ORPHANET OMIM MENDELIAN

More info about HORIZONTAL GAZE PALSY WITH PROGRESSIVE SCOLIOSIS

Low match CHARCOT-MARIE-TOOTH DISEASE TYPE 2R


Charcot-Marie-Tooth disease type 2R is a rare subtype of axonal hereditary motor and sensory neuropathy characterized by early-onset axial hypotonia, generalized muscle weakness, absent deep tendon reflexes and decreased muscle mass. Electromyography reveals decreased motor nerve conduction velocities with markedly reduced sensory and motor amplitudes.

CHARCOT-MARIE-TOOTH DISEASE TYPE 2R Is also known as charcot-marie-tooth disease, axonal, autosomal recessive, type 2r|cmt2r|charcot-marie-tooth neuropathy, type 2r

Related symptoms:

  • Generalized hypotonia
  • Muscle weakness
  • Flexion contracture
  • Motor delay
  • Peripheral neuropathy


SOURCES: ORPHANET OMIM MENDELIAN

More info about CHARCOT-MARIE-TOOTH DISEASE TYPE 2R

Low match LETHAL CONGENITAL CONTRACTURE SYNDROME 8; LCCS8


Lethal congenital contracture syndrome-8, an axoglial form of arthrogryposis multiplex congenita, is characterized by congenital distal joint contractures, reduced fetal movements, and severe motor paralysis leading to death early in the neonatal period (Laquerriere et al., 2014).For a general phenotypic description and a discussion of genetic heterogeneity of lethal congenital contracture syndrome, see LCCS1 (OMIM ).

Related symptoms:

  • Generalized hypotonia
  • Cleft palate
  • Flexion contracture
  • Respiratory distress
  • Areflexia


SOURCES: OMIM MENDELIAN

More info about LETHAL CONGENITAL CONTRACTURE SYNDROME 8; LCCS8

Low match LETHAL CONGENITAL CONTRACTURE SYNDROME 7; LCCS7


Lethal congenital contracture syndrome-7, an axoglial form of arthrogryposis multiplex congenita, is characterized by congenital distal joint contractures, polyhydramnios, reduced fetal movements, and severe motor paralysis leading to death early in the neonatal period (Laquerriere et al., 2014).For a general phenotypic description and a discussion of genetic heterogeneity of lethal congenital contracture syndrome, see LCCS1 (OMIM ).

Related symptoms:

  • Generalized hypotonia
  • Micrognathia
  • Cleft palate
  • Flexion contracture
  • Areflexia


SOURCES: OMIM MENDELIAN

More info about LETHAL CONGENITAL CONTRACTURE SYNDROME 7; LCCS7

Low match MYASTHENIC SYNDROME, CONGENITAL, 6, PRESYNAPTIC; CMS6


Congenital myasthenic syndromes (CMS) are a group of inherited disorders affecting the neuromuscular junction (NMJ). Patients present clinically with onset of variable muscle weakness between infancy and adulthood. These disorders have been classified according to the location of the defect: presynaptic, synaptic, and postsynaptic. CMS6 is an autosomal recessive CMS resulting from a presynaptic defect; patients have onset of symptoms in infancy or early childhood and tend to have sudden apneic episodes. Treatment with acetylcholinesterase inhibitors may be beneficial (summary by Engel et al., 2015).For a discussion of genetic heterogeneity of CMS, see CMS1A (OMIM ).

MYASTHENIC SYNDROME, CONGENITAL, 6, PRESYNAPTIC; CMS6 Is also known as myasthenic syndrome, presynaptic, congenital, associated with episodic apnea|congenital myasthenic syndrome type ia2, formerly|cms ia2, formerly|cms1a2, formerly|cmsea|fimg2, formerly|myasthenia, familial infantile, formerly|myasthenia gravis, familial in

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Hearing impairment
  • Failure to thrive
  • Strabismus


SOURCES: ORPHANET OMIM MENDELIAN

More info about MYASTHENIC SYNDROME, CONGENITAL, 6, PRESYNAPTIC; CMS6

Low match HYPERKALEMIC PERIODIC PARALYSIS


Hyperkalemic periodic paralysis (HyperPP) is a muscle disorder characterized by episodic attacks of muscle weakness associated with an increase in serum potassium concentration.

HYPERKALEMIC PERIODIC PARALYSIS Is also known as adynamia episodica hereditaria|hypp|familial hyperkalemic periodic paralysis|hyperkpp|gamstorp disease|familial hyperpp|gamstorp episodic adynamy|hyperpp|hyperkalemic pp|primary hyperpp|primary hyperkalemic periodic paralysis

Related symptoms:

  • Flexion contracture
  • Skeletal muscle atrophy
  • Gait disturbance
  • Respiratory insufficiency
  • Myopathy


SOURCES: ORPHANET MENDELIAN

More info about HYPERKALEMIC PERIODIC PARALYSIS

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


Autosomal dominant Charcot-Marie-Tooth disease type 2E (CMT2E) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy. CMT2E onset is in the first to 6th decade with a gait anomaly and a leg weakness that reaches the arms secondarily. Tendon reflexes are reduced or absent and, after years, all patients have a pes cavus. Other signs may be present, including hearing loss and postural tremor.

AUTOSOMAL DOMINANT CHARCOT-MARIE-TOOTH DISEASE TYPE 2E Is also known as cmt2e|charcot-marie-tooth neuropathy, type 2e

Related symptoms:

  • Generalized hypotonia
  • Hearing impairment
  • Scoliosis
  • Muscle weakness
  • Ptosis


SOURCES: MESH ORPHANET OMIM MENDELIAN

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

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

Symptoms // Phenotype % cases
Areflexia Common - Between 50% and 80% cases
Muscle weakness Common - Between 50% and 80% cases
Generalized hypotonia Uncommon - Between 30% and 50% cases
Peripheral neuropathy Uncommon - Between 30% and 50% cases
Respiratory distress 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 Paralysis. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Decreased motor nerve conduction velocity Pes cavus Arthrogryposis multiplex congenita Polyhydramnios Distal arthrogryposis Paresthesia Motor delay Distal sensory impairment Distal muscle weakness Congenital contracture Polyneuropathy Hyporeflexia Skeletal muscle atrophy

Rare Symptoms - Less than 30% cases


Ptosis Ophthalmoplegia Seizures Scoliosis Hearing impairment Facial diplegia Akinesia Oral-pharyngeal dysphagia Decreased fetal movement Dysarthria Pterygium Proximal muscle weakness Talipes equinovarus Cleft palate Myopathy Respiratory insufficiency Hammertoe Difficulty walking Knee flexion contracture Elevated serum creatine phosphokinase Decreased number of peripheral myelinated nerve fibers Axonal degeneration Peripheral axonal neuropathy Split hand Peripheral demyelination Ophthalmoparesis Onion bulb formation Falls Gait disturbance Distal amyotrophy Frequent falls Abnormality of the thymus EMG: decremental response of compound muscle action potential to repetitive nerve stimulation Hyperacusis Decreased miniature endplate potentials Easy fatigability Respiratory insufficiency due to muscle weakness Pure red cell aplasia Systemic lupus erythematosus Abnormality of the immune system Poor suck Rheumatoid arthritis Type 2 muscle fiber atrophy Myositis Bulbar palsy Glycosuria Raynaud phenomenon Acrocyanosis Sudden episodic apnea Primary adrenal insufficiency Fatigable weakness Hyperthyroidism Weak cry Hashimoto thyroiditis Arrhythmia Apneic episodes precipitated by illness, fatigue, stress Facial palsy Malignant hyperthermia Episodic flaccid weakness Periodic hyperkalemic paralysis High palate Hyperkeratosis Gait ataxia Foot dorsiflexor weakness Hyperkalemia Abnormality of the hand Impaired vibratory sensation Steppage gait Nemaline bodies Distal lower limb amyotrophy Increased connective tissue Ulnar claw Bowel incontinence Skeletal muscle hypertrophy Acetylcholine receptor antibody positivity Myalgia Generalized hypotonia due to defect at the neuromuscular junction Muscle specific kinase antibody positivity Single fiber EMG abnormality Congestive heart failure Hypertonia Diplopia Feeding difficulties in infancy Myotonia Chest pain Fasciculations EMG abnormality Reduced tendon reflexes Cerebral palsy Hypokalemia Hyponatremia Aspiration Increased CSF lactate Psychosis Ankle contracture Pendular nystagmus Thoracolumbar scoliosis Progressive external ophthalmoplegia Congenital nystagmus External ophthalmoplegia Abnormality of eye movement Cerebellar hypoplasia Kyphosis Short neck Cognitive impairment Sensorineural hearing impairment Nystagmus Peripheral hypomyelination Axonal loss Myokymia Difficulty climbing stairs Decreased nerve conduction velocity Sensorimotor neuropathy Lethargy Unsteady gait Abnormality of the foot Pain Global developmental delay Axonal degeneration/regeneration Vocal cord paresis Spinal deformities Hoarse voice Contractures of the joints of the lower limbs Hypoplasia of the pons Saccadic smooth pursuit Hepatitis Limb joint contracture Cyanosis Generalized muscle weakness Tapered finger Hemolytic anemia Autoimmunity Respiratory tract infection Apnea Rigidity Dyspnea Respiratory failure Dysphagia Fever Feeding difficulties Strabismus Facial myokymia Failure to thrive Fetal akinesia sequence Micrognathia Slender build Abnormal cranial nerve morphology Vocal cord paralysis Tracheomalacia Decreased muscle mass Broad-based gait Inability to walk Muscular hypotonia of the trunk Encephalopathy Horizontal supranuclear gaze palsy Progressive ophthalmoplegia Hypotrophy of the small hand muscles



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Frontal bossing and Hypotrichosis, related diseases and genetic alterations Obesity and Camptodactyly of finger, related diseases and genetic alterations Obesity and Hepatosplenomegaly, related diseases and genetic alterations

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more