Flexion contracture, and Paresthesia

Diseases related with Flexion contracture and Paresthesia

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

Top matches:

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

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

Autosomal dominant spastic paraplegia type 10 (SPG10) is a rare type of hereditary spastic paraplegia that can present as either a pure form of spastic paraplegia with lower limb spasticity, hyperreflexia and extensor plantar responses, presenting in childhood or adolescence, or as a complex phenotype associated with additional manifestations including peripheral neuropathy with upper limb amyotrophy, moderate intellectual disability and parkinsonism. Deafness and retinitis pigmentosa were reported in one case.

AUTOSOMAL DOMINANT SPASTIC PARAPLEGIA TYPE 10 Is also known as spastic paraplegia 10 with or without peripheral neuropathy|spg10

Related symptoms:

  • Intellectual disability
  • Hearing impairment
  • Scoliosis
  • Ataxia
  • Spasticity


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about AUTOSOMAL DOMINANT SPASTIC PARAPLEGIA TYPE 10

Other less relevant matches:

Hereditary neuralgic amyotrophy (HNA) is an autosomal dominant form of recurrent focal neuropathy characterized clinically by acute, recurrent episodes of brachial plexus neuropathy with muscle weakness and atrophy preceded by severe pain in the affected arm.

AMYOTROPHY, HEREDITARY NEURALGIC; HNA Is also known as neuritis with brachial predilection|napb|amyotrophy, hereditary neuralgic, with predilection for brachial plexus|brachial plexus neuropathy, hereditary

Related symptoms:

  • Short stature
  • Muscle weakness
  • Abnormal facial shape
  • Cleft palate
  • Pain


SOURCES: OMIM MENDELIAN

More info about AMYOTROPHY, HEREDITARY NEURALGIC; HNA

Myofibrillar myopathy (MFM) is a noncommittal term that refers to a group of morphologically homogeneous, but genetically heterogeneous chronic neuromuscular disorders. The morphologic changes in skeletal muscle in MFM result from disintegration of the sarcomeric Z disc and the myofibrils, followed by abnormal ectopic accumulation of multiple proteins involved in the structure of the Z disc, including desmin, alpha-B-crystallin (CRYAB ), dystrophin (OMIM ), and myotilin (TTID ). Genetic Heterogeneity of Myofibrillar MyopathyOther forms of MFM include MFM2 (OMIM ), caused by mutation in the CRYAB gene (OMIM ); MFM3 (OMIM ) (OMIM ), caused by mutation in the MYOT gene (OMIM ); MFM4 (OMIM ), caused by mutation in the ZASP gene (LDB3 ); MFM5 (OMIM ), caused by mutation in the FLNC gene (OMIM ); MFM6 (OMIM ), caused by mutation in the BAG3 gene (OMIM ); MFM7 (OMIM ), caused by mutation in the KY gene (OMIM ); and MFM8 (OMIM ), caused by mutation in the PYROXD1 gene (OMIM ).'Desmin-related myopathy' is another term referring to MFM in which there are intrasarcoplasmic aggregates of desmin, usually in addition to other sarcomeric proteins. Rigid spine syndrome (OMIM ), caused by mutation in the SEPN1 gene (OMIM ), is another desmin-related myopathy. Goebel (1995) provided a review of desmin-related myopathy.

MYOPATHY, MYOFIBRILLAR, 1; MFM1 Is also known as drm|cardiomyopathy, dilated, with conduction defect and muscular dystrophy|cardiomyopathy, dilated, 1f and limb-girdle muscular dystrophy type 1d, formerly|myopathy, myofibrillar, desmin-related|lgmd2r, formerly|desminopathy, primary|arvd7, formerly|cmd1f

Related symptoms:

  • Scoliosis
  • Muscle weakness
  • Pain
  • Cataract
  • Flexion contracture


SOURCES: ORPHANET OMIM MENDELIAN

More info about MYOPATHY, MYOFIBRILLAR, 1; MFM1

Stüve-Wiedemann syndrome (SWS) is a rare autosomal recessive congenital primary skeletal dysplasia, characterized by small stature, bowing of the long bones, camptodactyly, hyperthermic episodes, respiratory distress/apneic episodes and feeding difficulties that usually lead to early mortality.

STÜVE-WIEDEMANN SYNDROME Is also known as neonatal schwartz-jampel syndrome|stÜve-wiedemann dysplasia|sjs2|schwartz-jampel syndrome type 2

Related symptoms:

  • Short stature
  • Scoliosis
  • Muscular hypotonia
  • Flexion contracture
  • Intrauterine growth retardation


SOURCES: ORPHANET MENDELIAN

More info about STÜVE-WIEDEMANN SYNDROME

Emery-Dreifuss muscular dystrophy is characterized classically by the triad of weakness of the shoulder and pelvic girdle muscles, contractures of the elbows, neck, and Achilles tendon, and cardiac involvement, most commonly arrhythmias (summary by Jimenez-Escrig et al., 2012).For a discussion of genetic heterogeneity of EDMD, see {310300}.

AUTOSOMAL RECESSIVE EMERY-DREIFUSS MUSCULAR DYSTROPHY Is also known as edmd3

Related symptoms:

  • Intellectual disability
  • Scoliosis
  • Micrognathia
  • Muscle weakness
  • Abnormal facial shape


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about AUTOSOMAL RECESSIVE EMERY-DREIFUSS MUSCULAR DYSTROPHY

Low match LYNCH SYNDROME

LYNCH SYNDROME Is also known as coca2|colon cancer, familial nonpolyposis, type 2|fcc2

Related symptoms:

  • Seizures
  • Neoplasm
  • Muscular hypotonia
  • Flexion contracture
  • Visual impairment


SOURCES: ORPHANET OMIM MENDELIAN

More info about LYNCH SYNDROME

Grebe chondrodysplasia is an autosomal recessive disorder characterized by severe abnormality of the limbs and limb joints. The severity of limb shortening progresses in a proximal-distal gradient, with the hands and feet being most affected. The fingers and toes lack articulation and appear as skin appendages. In contrast, axial skeletal structures and the craniofacial skeleton are not affected. Heterozygous individuals are of average stature and have mild skeletal abnormalities (summary by Thomas et al., 1997).

CHONDRODYSPLASIA, GREBE TYPE Is also known as grebe chondrodysplasia|grebe dysplasia|achondrogenesis, brazilian|acromesomelic dysplasia, grebe type|amdg|achondrogenesis, type ii, formerly

Related symptoms:

  • Intellectual disability
  • Short stature
  • Hearing impairment
  • Scoliosis
  • Growth delay


SOURCES: OMIM MENDELIAN

More info about CHONDRODYSPLASIA, GREBE TYPE

Congenital Cataracts Facial Dysmorphism Neuropathy (CCFDN) syndrome is a complex developmental disorder of autosomal recessive inheritance.

CONGENITAL CATARACTS-FACIAL DYSMORPHISM-NEUROPATHY SYNDROME Is also known as ccfdn|cataract, congenital, with facial dysmorphism and neuropathy

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Scoliosis


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about CONGENITAL CATARACTS-FACIAL DYSMORPHISM-NEUROPATHY SYNDROME

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

Symptoms // Phenotype % cases
Gait disturbance Common - Between 50% and 80% cases
Scoliosis Common - Between 50% and 80% cases
Peripheral neuropathy Uncommon - Between 30% and 50% cases
Muscle weakness Uncommon - Between 30% and 50% cases
Intellectual disability Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Skeletal muscle atrophy Short stature Myalgia Proximal muscle weakness Elevated serum creatine phosphokinase Hearing impairment Scapular winging Arrhythmia Respiratory distress Myopathy Talipes equinovarus Pain Abnormal facial shape Muscular hypotonia Elbow flexion contracture Limb muscle weakness Abnormality of the skeletal system Lower limb muscle weakness Kyphosis

Rare Symptoms - Less than 30% cases

Camptodactyly of finger Genu valgum Ptosis Osteoporosis Abnormality of the dentition Abnormal pyramidal sign Palpitations Sensory impairment Fatigue Small hand Global developmental delay Edema Limb-girdle muscular dystrophy Sudden cardiac death EMG: myopathic abnormalities Vertigo Dilated cardiomyopathy Muscular dystrophy Joint stiffness Atrioventricular block Constipation Babinski sign Cataract Spinal rigidity Rimmed vacuoles Axonal degeneration Hyporeflexia of lower limbs Intrauterine growth retardation Hyperhidrosis Depressivity Pes cavus Atrial fibrillation Ankle contracture Polyneuropathy Chest pain Feeding difficulties in infancy Hypertonia Congestive heart failure Peripheral demyelination Respiratory insufficiency Peripheral hypomyelination Micrognathia Myotonia Malignant hyperthermia Distal sensory impairment Decreased motor nerve conduction velocity Cognitive impairment Sensorimotor neuropathy Distal muscle weakness Paralysis Hyporeflexia Ataxia Areflexia Reduced tendon reflexes Motor delay Axonal loss Difficulty climbing stairs Hepatocellular carcinoma Proximal upper limb amyotrophy Pituitary adenoma Ovarian neoplasm Neuroblastoma Colon cancer Neoplasm of the pancreas Amaurosis fugax Intestinal polyposis Neoplasm of the thyroid gland Cardiac diverticulum Neoplasm of the rectum Abnormality of creatine metabolism Progeroid facial appearance Shoulder girdle muscle weakness Neoplasm of the skeletal system Benign neoplasm of the central nervous system Agnosia Prostate cancer Glioblastoma multiforme Pancreatic adenocarcinoma Leiomyosarcoma Limb-girdle muscle weakness Basal cell carcinoma Achilles tendon contracture Dysgraphia Visual field defect Increased connective tissue Hemiplegia/hemiparesis Neoplasm Anxiety Carcinoma Weight loss Behavioral abnormality Dysarthria Visual impairment Limb-girdle muscle atrophy Seizures Irritability Permanent atrial fibrillation Restricted neck movement due to contractures Decreased cervical spine flexion due to contractures of posterior cervical muscles Absent muscle fiber emerin Pelvic girdle muscle atrophy Type 1 muscle fiber atrophy Ventricular escape rhythm Developmental regression Proximal muscle weakness in upper limbs Breast carcinoma Migraine Increased intracranial pressure Hallucinations Memory impairment Decreased HDL cholesterol concentration Proximal muscle weakness in lower limbs Pelvic girdle muscle weakness Gastrointestinal hemorrhage Supraventricular arrhythmia Attention deficit hyperactivity disorder Increased LDL cholesterol concentration Dyskinesia Nausea and vomiting Malabsorption Shoulder girdle muscle atrophy Proximal lower limb amyotrophy Neurological speech impairment Abdominal pain Disproportionate short-limb short stature Urinary tract neoplasm Cerebral cortical atrophy Decreased testicular size Chorea Microcornea Sensory neuropathy Dysmetria Congenital cataract Hypoglycemia Kyphoscoliosis Hypogonadism Interphalangeal joint contracture of finger Cerebral atrophy Microphthalmia Intellectual disability, mild Ventriculomegaly Tremor Fever Strabismus Nystagmus Amenorrhea Intention tremor Aplasia/Hypoplasia of metatarsal bones Genu recurvatum Upper limb postural tremor Malar prominence Recurrent myoglobinuria Abnormality of the cervical spine Motor polyneuropathy Abnormality of peripheral nerve conduction Decreased serum estradiol Motor axonal neuropathy Myoglobinuria Primary amenorrhea Rhabdomyolysis Secondary amenorrhea Postural tremor CNS hypomyelination Hypogonadotrophic hypogonadism Hypergonadotropic hypogonadism Long eyelashes Split hand Valgus hand deformity Acromesomelia Growth delay Talipes Osteoarthritis Abnormality of the ribs Postaxial hand polydactyly Limb undergrowth Macroglossia Short foot Postaxial polydactyly Hirsutism Pectus carinatum Hydrops fetalis Hepatosplenomegaly Jaundice Umbilical hernia Polydactyly Severe short stature Inguinal hernia Hernia Brachydactyly Short phalanx of finger Aortic regurgitation Short digit Fibular hypoplasia Aplasia/Hypoplasia involving the metacarpal bones Pes valgus Aplasia/Hypoplasia of the patella Constrictive median neuropathy Short 1st metacarpal Short femur Dysostosis multiplex Short tibia Short humerus Restrictive ventilatory defect Prolonged neonatal jaundice Hallux valgus Metatarsus adductus Hypoplasia of the ulna Short middle phalanx of finger Heart murmur Hypoplasia of the radius Recurrent upper respiratory tract infections Sprengel anomaly Micromelia Generalized amyotrophy Syndactyly Finger syndactyly Blepharophimosis Rigidity Deeply set eye Narrow mouth Upslanted palpebral fissure Epicanthus Postural instability Depressed nasal bridge Low-set ears Cleft palate Ankle weakness Knee clonus Upper limb spasticity Upper motor neuron dysfunction Facial asymmetry Bifid uvula Distal lower limb amyotrophy Peripheral axonal degeneration Dilatation Diarrhea Cardiomyopathy Delayed speech and language development Brachial plexus neuropathy Radial head subluxation Cutis gyrata of scalp Neuritis Hypotelorism Weak voice Dysesthesia Chronic pain Facial paralysis Narrow palpebral fissure Narrow face Hoarse voice Areflexia of lower limbs Varicose veins Respiratory failure Cerebral palsy Episodic flaccid weakness Bowel incontinence Hyperkalemia Skeletal muscle hypertrophy Ophthalmoparesis Hyponatremia Hypokalemia EMG abnormality Spasticity Fasciculations Distal arthrogryposis Onion bulb formation Decreased nerve conduction velocity Frequent falls Falls Unsteady gait Periodic hyperkalemic paralysis Hyperreflexia Urinary bladder sphincter dysfunction Lower limb spasticity Impaired vibration sensation in the lower limbs Ankle clonus Lower limb hyperreflexia Urinary urgency Impaired vibratory sensation Clonus Spastic gait Urinary incontinence Rod-cone dystrophy Parkinsonism Distal amyotrophy Peripheral axonal neuropathy Paraplegia Spastic paraplegia Mental deterioration Intellectual disability, moderate Pneumonia Dyspnea Toe walking Sacral dimple Abnormal cortical bone morphology Trismus Episodic fever Impaired pain sensation Metaphyseal widening Abnormality of vision Knee flexion contracture Thickened cortex of long bones Abnormal autonomic nervous system physiology Hypohidrosis Bowing of the long bones Abnormality of the metaphysis Oligohydramnios Limitation of joint mobility Asthma Lacrimation abnormality Ectopic thyroid Abnormality of the eye Waddling gait Congenital muscular dystrophy Lipodystrophy Back pain Diplopia Abnormal lung morphology Hypertriglyceridemia Lumbar hyperlordosis Ichthyosis Decreased corneal reflex Hyperlordosis Pectus excavatum Obesity Hypertension Absent patellar reflexes Smooth tongue Flexion contracture of finger Recurrent fractures Apnea Hypertrophic cardiomyopathy Ventricular tachycardia Mildly elevated creatine phosphokinase Right bundle branch block Bundle branch block Increased variability in muscle fiber diameter Tricuspid regurgitation Akinesia Respiratory insufficiency due to muscle weakness Muscle stiffness Bulbar palsy Progressive muscle weakness Myocardial infarction Ventricular hypertrophy Syncope Generalized muscle weakness Tachycardia Facial palsy Hypokinesia Centrally nucleated skeletal muscle fibers Skeletal dysplasia Intestinal pseudo-obstruction Osteopenia Hypothyroidism Restrictive heart failure Pica Late-onset proximal muscle weakness Third degree atrioventricular block Sick sinus syndrome Right ventricular cardiomyopathy Neck muscle weakness Skeletal myopathy Myofibrillar myopathy Restrictive cardiomyopathy Atrial flutter Ventricular extrasystoles Progressive proximal muscle weakness Heart block Acute rhabdomyolysis


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