Flexion contracture, and Urinary incontinence

Diseases related with Flexion contracture and Urinary incontinence

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

Top matches:

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

Infantile-onset ascending hereditary spastic paralysis (IAHSP) is a very rare motor neuron disease characterized by severe spasticity of the lower limbs in early life, progression of spasticity to the upper limbs in late childhood, and dysarthria.

INFANTILE-ONSET ASCENDING HEREDITARY SPASTIC PARALYSIS Is also known as iahsp

Related symptoms:

  • Scoliosis
  • Muscle weakness
  • Spasticity
  • Motor delay
  • Hyperreflexia


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about INFANTILE-ONSET ASCENDING HEREDITARY SPASTIC 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:

Spinal muscular atrophy with respiratory distress type 1 is a rare genetic motor neuron disease characterized by severe respiratory distress/respiratory failure in association with diaphragmatic eventration and palsy, as well as progressive, symmetrical, distal-to-proximal muscle weakness and atrophy (in lower limbs especially). Patients typically have a history of intrauterine growth retardation, low birth weight, feeble cry, weak suck and failure to thrive and present with inspiratory stridor, recurrent episodes of dyspnea or apnea, cyanosis and absent deep tendon reflexes. Kyphosis/scoliosis, foot deformities and joint contractures are frequently associated features.

SPINAL MUSCULAR ATROPHY WITH RESPIRATORY DISTRESS TYPE 1 Is also known as dhmn6|hmn6|neuronopathy, distal hereditary motor, type vi|spinal muscular atrophy, diaphragmatic|autosomal recessive distal spinal muscular atrophy type 1|autosomal recessive spinal muscular atrophy with respiratory distress|dsma1|distal-hmn type 6|diaphr

Related symptoms:

  • Generalized hypotonia
  • Growth delay
  • Failure to thrive
  • Muscle weakness
  • Muscular hypotonia


SOURCES: ORPHANET OMIM MENDELIAN

More info about SPINAL MUSCULAR ATROPHY WITH RESPIRATORY DISTRESS TYPE 1

Autosomal recessive spastic paraplegia type 54 (SPG54) is a rare, complex form of hereditary spastic paraplegia characterized by the onset in early childhood of progressive spastic paraplegia associated with cerebellar signs, short stature, delayed psychomotor development, intellectual disability and, less commonly, foot contractures, dysarthria, dysphagia, strabismus and optic hypoplasia. SPG54 is caused by mutations in the DDHD2 gene (8p11.23) encoding phospholipase DDHD2.

AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 54 Is also known as spg54

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Strabismus
  • Spasticity


SOURCES: ORPHANET OMIM MENDELIAN

More info about AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 54

Autosomal recessive spastic paraplegia type 44 (SPG44) is a very rare, complex form of hereditary spastic paraplegia characterized by a late-onset, slowly progressive spastic paraplegia associated with mild ataxia and dysarthria, upper extremity involvement (i.e. loss of finger dexterity, dysmetria), and mild cognitive impairment, without the presence of nystagmus. A hypomyelinating leukodystrophy and thin corpus callosum is observed in all cases and psychomotor development is normal or near normal. SPG44 is caused by mutations in the GJC2 gene (1q41-q42) encoding the gap junction gamma-2 protein.

AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 44 Is also known as spg44

Related symptoms:

  • Seizures
  • Scoliosis
  • Ataxia
  • Nystagmus
  • Strabismus


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 44

Autosomal dominant spastic paraplegia type 4 (SPG4) is a form of hereditary spastic paraplegia with high intrafamilial clinical variability, characterized in most cases as a pure phenotype with an adult onset (mainly the 3rd to 5th decade of life, but that can present at any age) of progressive gait impairment due to bilateral lower-limb spasticity and weakness as well as very mild proximal weakness and urinary urgency. In some cases, a complex phenotype is also reported with additional manifestations including cognitive impairment, cerebellar ataxia, epilepsy and neuropathy. A faster disease progression is noted in patients with a later age of onset.

AUTOSOMAL DOMINANT SPASTIC PARAPLEGIA TYPE 4 Is also known as familial spastic paraplegia, autosomal dominant, 2|spg4|fsp2

Related symptoms:

  • Intellectual disability
  • Seizures
  • Ataxia
  • Nystagmus
  • Muscle weakness


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about AUTOSOMAL DOMINANT SPASTIC PARAPLEGIA TYPE 4

Autosomal recessive spastic paraplegia type 46 (SPG46) is a rare, complex type of hereditary spastic paraplegia characterized by an onset, in infancy or childhood, of the typical signs of spastic paraplegia (i.e. spastic gait and weakness of the lower limbs) associated with a variety of additional manifestations including upper limb spasticity and weakness, pseudobulbar dysarthria, bladder dysfunction, cerebellar ataxia, cataracts, and cognitive impairment that can progress to dementia. Brain imaging may show thinning of the corpus callosum and mild atrophy of the cerebrum and cerebellum. SPG46 is due to mutations in the GBA2 gene (9p13.2) encoding non-lysosomal glucosylceramidase.

AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 46 Is also known as spg46

Related symptoms:

  • Intellectual disability
  • Hearing impairment
  • Scoliosis
  • Ataxia
  • Nystagmus


SOURCES: OMIM ORPHANET MENDELIAN

More info about AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 46

Autosomal dominant Charcot-Marie-Tooth disease type 2C (CMT2C) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, characterized by the association of vocal cord anomalies, impairment of respiratory muscles and sensorineural hearing loss with the distal hands and feet weakness. Onset is between infancy and the 6th decade.

AUTOSOMAL DOMINANT CHARCOT-MARIE-TOOTH DISEASE TYPE 2C Is also known as hmsn iic|charcot-marie-tooth neuropathy, type 2c|charcot-marie-tooth disease, axonal, autosomal dominant, type 2c|cmt2c

Related symptoms:

  • Short stature
  • Hearing impairment
  • Scoliosis
  • Ataxia
  • Strabismus


SOURCES: OMIM ORPHANET MENDELIAN

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

Posterior column ataxia - retinitis pigmentosa is characterized by the association of progressive sensory ataxia and retinitis pigmentosa.

POSTERIOR COLUMN ATAXIA-RETINITIS PIGMENTOSA SYNDROME Is also known as pcarp|autosomal recessive posterior column ataxia and retinitis pigmentosa

Related symptoms:

  • Intellectual disability
  • Seizures
  • Generalized hypotonia
  • Scoliosis
  • Ataxia


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about POSTERIOR COLUMN ATAXIA-RETINITIS PIGMENTOSA SYNDROME

Top 5 symptoms//phenotypes associated to Flexion contracture and Urinary incontinence

Symptoms // Phenotype % cases
Babinski sign Common - Between 50% and 80% cases
Scoliosis Common - Between 50% and 80% cases
Spasticity Common - Between 50% and 80% cases
Peripheral neuropathy Common - Between 50% and 80% cases
Pes cavus Common - Between 50% and 80% cases

Other less frequent symptoms

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

Common Symptoms - More than 50% cases

Hyperreflexia

Uncommon Symptoms - Between 30% and 50% cases

Lower limb muscle weakness

Common Symptoms - More than 50% cases

Spastic paraplegia

Uncommon Symptoms - Between 30% and 50% cases

Paraplegia

Common Symptoms - More than 50% cases

Spastic gait

Uncommon Symptoms - Between 30% and 50% cases

Skeletal muscle atrophy

Common Symptoms - More than 50% cases

Muscle weakness

Uncommon Symptoms - Between 30% and 50% cases

Ataxia Intellectual disability Gait disturbance Peripheral axonal neuropathy Dysarthria Lower limb spasticity Distal amyotrophy Impaired vibration sensation in the lower limbs Dysphagia Hypoplasia of the corpus callosum Cognitive impairment Distal muscle weakness Distal sensory impairment Abnormal pyramidal sign Difficulty walking Areflexia Motor delay Hearing impairment Limb muscle weakness Impaired vibratory sensation Urinary urgency Ankle clonus Urinary bladder sphincter dysfunction Upper limb spasticity Progressive spastic paraplegia Respiratory insufficiency Constipation Paralysis Sensory impairment Sensory neuropathy Mental deterioration Sensorimotor neuropathy Brisk reflexes Seizures Generalized hypotonia Strabismus Nystagmus

Rare Symptoms - Less than 30% cases

Kyphosis Sensorineural hearing impairment Cataract Dementia Broad-based gait Cerebellar atrophy Axonal degeneration Delayed gross motor development Dysmetria Tremor Diaphragmatic weakness Spinal muscular atrophy Knee clonus Impaired vibration sensation at ankles Inspiratory stridor Short stature Respiratory distress Hyporeflexia Bowel incontinence Respiratory failure Progressive muscle weakness Talipes equinovarus Global developmental delay Cerebral cortical atrophy Clonus Decreased number of large peripheral myelinated nerve fibers Hammertoe Paraparesis Spastic paraparesis Dysphonia Foot dorsiflexor weakness Muscle cramps Slow saccadic eye movements Motor neuron atrophy Rod-cone dystrophy Hyperreflexia in upper limbs Apnea Abnormal sperm morphology Upper limb dysmetria Abnormal tendon morphology Sperm head anomaly Fatigue Pectus excavatum Skeletal dysplasia Hip dislocation Reduced sperm motility Dolichocephaly Polyneuropathy Bilateral sensorineural hearing impairment Tetraparesis Lewy bodies Hoarse voice Congenital hip dislocation Knee flexion contracture Jerky ocular pursuit movements Neurogenic bladder Limb dysmetria Abnormal cerebellum morphology Split hand Functional motor deficit Degeneration of the lateral corticospinal tracts Proximal muscle weakness Cerebral atrophy Abnormality of the cerebral white matter Infertility Decreased testicular size Leg muscle stiffness Hypertonia Truncal ataxia Head tremor Corpus callosum atrophy Sleep apnea Low back pain Spastic dysarthria Disinhibition Intellectual disability, moderate Wheezing Stridor Gastrointestinal dysmotility Limb ataxia Joint contracture of the hand Osteomyelitis Scotoma Undetectable electroretinogram Achalasia Acanthocytosis Bone spicule pigmentation of the retina Impaired proprioception Chronic pain Pigmentary retinopathy Sensory ataxia Titubation Positive Romberg sign Decreased sensory nerve conduction velocity Abnormality of the spinal cord Truncal titubation Flexion contracture of finger Ring scotoma Abnormality of peripheral nerves Recurrent urinary tract infections Abnormality of movement Neurofibrillary tangles Hand muscle atrophy Obstructive sleep apnea Down-sloping shoulders Vocal cord paralysis Hand muscle weakness Oculomotor nerve palsy Progressive peripheral neuropathy Abducens palsy Shoulder girdle muscle atrophy Vocal cord paresis Bilateral vocal cord paralysis Nyctalopia Intercostal muscle weakness Decreased distal sensory nerve action potential Bilateral vocal cord paresis Visual impairment Optic atrophy Blindness Intellectual disability, mild Visual loss Gait ataxia Camptodactyly Arachnoid cyst Neurodegeneration Agitation Decreased fetal movement Bulbar palsy Drooling Hyperhidrosis Spastic tetraplegia Camptodactyly of finger Small for gestational age Abnormality of the foot Premature birth Tetraplegia Feeding difficulties Severe muscular hypotonia Tachypnea Decreased nerve conduction velocity Inability to walk Abnormality of eye movement Weak cry Hypoventilation Recurrent lower respiratory tract infections EMG: neuropathic changes Intrauterine growth retardation Pain Diaphragmatic eventration Loss of ability to walk Paresthesia Abnormality of the corticospinal tract Small hand Parkinsonism Pseudobulbar behavioral symptoms Impaired mastication Lower limb hyperreflexia Anarthria Morphological abnormality of the pyramidal tract Muscular hypotonia Varicose veins Distal lower limb amyotrophy Areflexia of lower limbs Upper motor neuron dysfunction Achilles tendon contracture Abnormal lower motor neuron morphology Ankle weakness Growth delay Failure to thrive Degeneration of anterior horn cells Diaphragmatic paralysis Apathy Abnormal auditory evoked potentials Intention tremor Clumsiness Leukodystrophy Leukoencephalopathy CNS hypomyelination Slurred speech Ankle contracture Abnormality of visual evoked potentials Abnormal motor evoked potentials Hyperlordosis Abnormality of somatosensory evoked potentials Fasciculations Depressivity Abnormality of the nervous system Aggressive behavior Irritability Memory impairment Neuronal loss in central nervous system Hyperkinesis Lumbar hyperlordosis Sensory axonal neuropathy Abnormality of the eye Optic nerve hypoplasia Nocturnal hypoventilation Peripheral axonal degeneration Ventilator dependence with inability to wean Denervation of the diaphragm Neck flexor weakness High palate Myokymia Telecanthus Distal lower limb muscle weakness High pitched voice Progressive spasticity Abnormality of the periventricular white matter Syringomyelia Periventricular leukomalacia Tip-toe gait Optic disc hypoplasia Periventricular white matter hyperdensities Contractures involving the joints of the feet Onion bulb formation Abnormal sensory nerve conduction velocity


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