Pain, and Talipes

Diseases related with Pain and Talipes

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


Top matches:

Low match VERTICAL TALUS, CONGENITAL; CVT


Congenital vertical talus (CVT), also known as 'rocker-bottom foot' deformity, is a dislocation of the talonavicular joint characterized by vertical orientation of the talus with a rigid dorsal dislocation of the navicular, equinus deformity of the calcaneus, abduction deformity of the forefoot, and contracture of the soft tissues of the hind- and mid-foot. This condition is usually associated with multiple other congenital deformities and only rarely is an isolated deformity with familial occurrence (summary by Levinsohn et al., 2004). The condition is transmitted in an autosomal dominant pattern of inheritance, and sometimes shows incomplete penetrance and variable expressivity. There may be a broad spectrum of deformities, including flatfoot, talipes equinovarus (TEV or clubfoot), cavus foot, metatarsus adductus, and even hypoplasia of the tibia (summary by Dobbs et al., 2006).

VERTICAL TALUS, CONGENITAL; CVT Is also known as pes valgus, congenital convex|rocker-bottom foot

Related symptoms:

  • Pain
  • Flexion contracture
  • Talipes equinovarus
  • Arthritis
  • Abnormality of the foot


SOURCES: ORPHANET OMIM MENDELIAN

More info about VERTICAL TALUS, CONGENITAL; CVT

Low match RIPPLING MUSCLE DISEASE


Rippling muscle disease is a rare, genetic, neuromuscular disorder characterized by muscle hyperirritability triggered by stretch, percussion or movement. Patients present wave-like, electrically-silent muscle contractions (rippling), muscle mounding, painful muscle stiffness and muscle hypertrophy, usually with elevated serum creatine kinase.

RIPPLING MUSCLE DISEASE Is also known as muscular dystrophy, limb-girdle, type 1c, formerly|rippling muscle disease|rmd|lgmd1c, formerly

Related symptoms:

  • Muscle weakness
  • Pain
  • Fatigue
  • Talipes equinovarus
  • Cardiomyopathy


SOURCES: ORPHANET OMIM MENDELIAN

More info about RIPPLING MUSCLE DISEASE

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


Autosomal dominant Charcot-Marie-Tooth disease type 2F (CMT2F) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy. CMT2F is characterized by symmetric weakness primarily occurring in the lower limbs (distal muscles in a majority of cases) and reaching the arms only after 5 to 10 years, occasional and predominantly distal sensory loss and reduced tendon reflexes. CMT2F presents with gait anomaly between the 1st and 6th decade and early onset is generally associated to a more severe phenotype which may include foot drop.

AUTOSOMAL DOMINANT CHARCOT-MARIE-TOOTH DISEASE TYPE 2F Is also known as charcot-marie-tooth neuropathy, type 2f|charcot-marie-tooth disease, neuronal, type 2f|cmt2f

Related symptoms:

  • Hearing impairment
  • Pain
  • Peripheral neuropathy
  • Talipes equinovarus
  • Areflexia


SOURCES: ORPHANET OMIM MESH MENDELIAN

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

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Other less relevant matches:

Low match CHARCOT-MARIE-TOOTH DISEASE TYPE 4B2


Charcot-Marie-Tooth disease type 4B2 (CMT4B2) is a subtype of Charcot-Marie-Tooth type 4 characterized by a severe, early childhood-onset of demyelinating sensorimotor neuropathy, early-onset glaucoma, focally folded myelin sheaths in the peripheral nerves, severely reduced nerve conduction velocities, and the typical CMT phenotype (i.e. distal muscle weakness and atrophy, sensory loss, and frequent pes cavus). Severe visual impairment leading to visual loss has also been reported.

CHARCOT-MARIE-TOOTH DISEASE TYPE 4B2 Is also known as charcot-marie-tooth disease, with focally folded myelin sheaths, autosomal recessive, type 4b2|cmt4b2|charcot-marie-tooth neuropathy, type 4b2

Related symptoms:

  • Hearing impairment
  • Sensorineural hearing impairment
  • Muscle weakness
  • Pain
  • Visual impairment


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about CHARCOT-MARIE-TOOTH DISEASE TYPE 4B2

Low match LAING EARLY-ONSET DISTAL MYOPATHY


Laing distal myopathy, also called myopathy distal, type 1 (MPD1), is characterized by early-onset selective weakness of the great toe and ankle dorsiflexors, and a very slowly progressive course.

LAING EARLY-ONSET DISTAL MYOPATHY Is also known as distal myopathy type 1|mpd1|gowers disease|myopathy, distal, swedish|muscular dystrophy, distal, late-onset, autosomal dominant

Related symptoms:

  • Muscle weakness
  • Myopathy
  • Proximal muscle weakness
  • Distal muscle weakness
  • Muscular dystrophy


SOURCES: ORPHANET OMIM MENDELIAN

More info about LAING EARLY-ONSET DISTAL MYOPATHY

Low match KYPHOSCOLIOSIS-LATERAL TONGUE ATROPHY-HEREDITARY SPASTIC PARAPLEGIA SYNDROME


KYPHOSCOLIOSIS-LATERAL TONGUE ATROPHY-HEREDITARY SPASTIC PARAPLEGIA SYNDROME Is also known as kyphoscoliosis-lateral tongue atrophy-hsp syndrome

Related symptoms:

  • Intellectual disability
  • Pain
  • Dysphagia
  • Talipes equinovarus
  • Cerebellar atrophy


SOURCES: ORPHANET MENDELIAN

More info about KYPHOSCOLIOSIS-LATERAL TONGUE ATROPHY-HEREDITARY SPASTIC PARAPLEGIA SYNDROME

Low match AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2M


Autosomal recessive limb-girdle muscular dystrophy type 2M (LGMD2M) is a form of limb-girdle muscular dystrophy characterized by an infantile onset of hypotonia, axial and proximal lower limb weakness (with severe weakness noted after febrile illnesses), cardiomyopathy and normal or reduced intelligence. Hypertrophy of calves, thighs, and triceps have also been reported in some cases.

AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2M Is also known as muscular dystrophy, limb-girdle, autosomal recessive 13|lgmdr13|muscular dystrophy, limb-girdle, type 2m|lgmd2m

Related symptoms:

  • Generalized hypotonia
  • Growth delay
  • Muscle weakness
  • Muscular hypotonia
  • Flexion contracture


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2M

Low match DOPA-RESPONSIVE DYSTONIA DUE TO SEPIAPTERIN REDUCTASE DEFICIENCY


Dopa-responsive dystonia (DRD) due to sepiapterin reductase deficiency (SRD) is a very rare neurometabolic disorder characterized by dystonia with diurnal fluctuations, axial hypotonia, oculogyric crises, and delays in motor and cognitive development.

DOPA-RESPONSIVE DYSTONIA DUE TO SEPIAPTERIN REDUCTASE DEFICIENCY Is also known as srd|spr deficiency|drd due to srd|sepiapterin reductase deficiency|autosomal recessive sepiapterin reductase-deficient drd

Related symptoms:

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


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about DOPA-RESPONSIVE DYSTONIA DUE TO SEPIAPTERIN REDUCTASE DEFICIENCY

Low match SPINAL MUSCULAR ATROPHY WITH RESPIRATORY DISTRESS TYPE 1


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

Low match HEREDITARY SENSORY AND AUTONOMIC NEUROPATHY TYPE 6


Hereditary sensory and autonomic neuropathy type VI is a severe autosomal recessive disorder characterized by neonatal hypotonia, respiratory and feeding difficulties, lack of psychomotor development, and autonomic abnormalities including labile cardiovascular function, lack of corneal reflexes leading to corneal scarring, areflexia, and absent axonal flare response after intradermal histamine injection (summary by Edvardson et al., 2012).For a discussion of genetic heterogeneity of hereditary sensory and autonomic neuropathy, see HSAN1 (OMIM ).

HEREDITARY SENSORY AND AUTONOMIC NEUROPATHY TYPE 6 Is also known as familial dysautonomia with contractures|hereditary sensory and autonomic neuropathy type vi|hsan6|hsan vi

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Growth delay
  • Pain


SOURCES: OMIM ORPHANET MENDELIAN

More info about HEREDITARY SENSORY AND AUTONOMIC NEUROPATHY TYPE 6

Top 5 symptoms//phenotypes associated to Pain and Talipes

Symptoms // Phenotype % cases
Talipes equinovarus Very Common - Between 80% and 100% cases
Muscle weakness Common - Between 50% and 80% cases
Hyporeflexia Uncommon - Between 30% and 50% cases
Peripheral neuropathy Uncommon - Between 30% and 50% cases
Distal amyotrophy Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Pain and Talipes. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Distal muscle weakness Generalized hypotonia Growth delay Lower limb muscle weakness Flexion contracture Steppage gait Abnormality of the foot Limb-girdle muscular dystrophy Muscle cramps Muscular dystrophy Proximal muscle weakness Areflexia Hyperhidrosis Pes cavus Motor delay

Rare Symptoms - Less than 30% cases


Peripheral axonal neuropathy Global developmental delay Decreased motor nerve conduction velocity Distal sensory impairment Split hand Fasciculations Foot dorsiflexor weakness Reduced tendon reflexes Skeletal muscle atrophy Limb muscle weakness EMG: neuropathic changes Upper limb amyotrophy Ulnar claw Sensory neuropathy Respiratory insufficiency Feeding difficulties Seizures Frequent falls Intellectual disability Babinski sign Small for gestational age Tachycardia Muscular hypotonia Falls Kyphoscoliosis Apnea Skeletal muscle hypertrophy Difficulty walking Irritability Elevated serum creatine phosphokinase Myopathy Muscle stiffness Scapular winging Gowers sign Myotonia Toe walking Myalgia Calf muscle hypertrophy Hearing impairment Abnormal autonomic nervous system physiology Horizontal nystagmus Bradycardia Hyperactivity Open mouth Scarring Limited hip extension Myoclonus Oculomotor apraxia Agitation Clonus Cerebral palsy Drooling Hyperkinesis Dystonia Postural tremor Athetosis Truncal ataxia Hand clenching Short chin Sleep disturbance Abnormal pyramidal sign Corneal scarring Abnormality of eye movement Abnormality of movement Poor speech Muscular hypotonia of the trunk Aggressive behavior Dyskinesia Parkinsonism Alacrima Bradykinesia Abnormality of extrapyramidal motor function Drowsiness Anxiety Rigidity Progressive neurologic deterioration Choreoathetosis Involuntary movements Apraxia Neonatal hypotonia Limb hypertonia Recurrent lower respiratory tract infections Progressive muscle weakness Severe muscular hypotonia Tachypnea Decreased nerve conduction velocity Spinal muscular atrophy Axonal degeneration Weak cry Hypoventilation Degeneration of anterior horn cells Hypertonia Low-set ears Diaphragmatic eventration Denervation of the diaphragm Ventilator dependence with inability to wean Peripheral axonal degeneration Nocturnal hypoventilation Diaphragmatic weakness Inspiratory stridor Diaphragmatic paralysis Decreased fetal movement Premature birth Generalized dystonia Hyperphenylalaninemia Hypomimic face Abnormality of the nose Excessive salivation Abnormality of the tongue Hypersomnia Excessive daytime sleepiness Oculogyric crisis Temperature instability Fever Urinary incontinence Transient hyperphenylalaninemia Failure to thrive Intrauterine growth retardation High palate Respiratory distress Constipation Respiratory failure Paralysis Camptodactyly of finger Behavioral abnormality Dilated cardiomyopathy Gait disturbance Peripheral demyelination EMG: chronic denervation signs Impaired temperature sensation Chronic axonal neuropathy Limb fasciculations Sensorineural hearing impairment Visual impairment Visual loss Glaucoma Sensorimotor neuropathy Distal lower limb amyotrophy Hammertoe Congenital glaucoma Decreased number of peripheral myelinated nerve fibers Onion bulb formation Megalocornea Abnormal cranial nerve morphology Increased intraocular pressure Buphthalmos Segmental peripheral demyelination/remyelination Restless legs Impaired pain sensation Small hand Hypertrophic cardiomyopathy Arthritis Rocker bottom foot Metatarsus adductus Short tibia Calcaneovalgus deformity Equinus calcaneus Fatigue Cardiomyopathy Overgrowth Sleep apnea EMG abnormality Fatigable weakness Exercise-induced myalgia Exercise-induced muscle cramps Exercise-induced muscle stiffness Muscle mounding Muscle hyperirritability Percussion-induced rapid rolling muscle contractions Paresthesia Myelin outfoldings Sensory impairment Tremor Muscle fiber hypertrophy Spinal rigidity Motor deterioration Wolff-Parkinson-White syndrome Neck flexor weakness Abnormal glycosylation Hypoglycosylation of alpha-dystroglycan Fatty replacement of skeletal muscle Moderately reduced ejection fraction Reduced muscle fiber merosin Infantile muscular hypotonia Microcephaly Ataxia Nystagmus Spasticity Ptosis Cognitive impairment Delayed speech and language development Hyperreflexia Dysarthria Generalized amyotrophy Lumbar hyperlordosis Clumsiness Lower limb hyperreflexia Mildly elevated creatine phosphokinase Rimmed vacuoles Autophagic vacuoles Dysphagia Cerebellar atrophy Cerebral atrophy Lower limb spasticity Knee flexion contracture Delayed gross motor development Progressive spastic paraplegia Waddling gait Difficulty running Lower limb amyotrophy Tongue atrophy Difficulty standing Proximal muscle weakness in upper limbs Abnormal levels of creatine kinase in blood Hydrocephalus Pectus excavatum Hyperlordosis Blotching pigmentation of the skin



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