Flexion contracture, and Pes cavus

Diseases related with Flexion contracture and Pes cavus

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

Top matches:

Autosomal recessive intermediate Charcot-Marie-Tooth disease type A is a subtype of autosomal recessive intermediate Charcot-Marie-Tooth (CMT) disease characterized by severe, early childhood-onset CMT neuropathy with prominent pes equinovarus deformity and impairment of hand muscles. Nerve conduction velocities usually range between 25-35 m/s and both axonal and demyelinating changes are observed on peripheral nerve pathology.

AUTOSOMAL RECESSIVE INTERMEDIATE CHARCOT-MARIE-TOOTH DISEASE TYPE A Is also known as charcot-marie-tooth neuropathy, recessive intermediate a|ri-cmta|ri-cmt type a

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about AUTOSOMAL RECESSIVE INTERMEDIATE CHARCOT-MARIE-TOOTH DISEASE TYPE A

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

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

Other less relevant matches:

AUTOSOMAL RECESSIVE INTERMEDIATE CHARCOT-MARIE-TOOTH DISEASE TYPE D Is also known as ri-cmt type d

Related symptoms:

  • Hearing impairment
  • Muscle weakness
  • Pain
  • Flexion contracture
  • Peripheral neuropathy


SOURCES: ORPHANET OMIM MENDELIAN

More info about AUTOSOMAL RECESSIVE INTERMEDIATE CHARCOT-MARIE-TOOTH DISEASE TYPE D

Charcot-Marie-Tooth disease type 2X (CMT2X) is an autosomal recessive, slowly progressive, axonal peripheral sensorimotor neuropathy characterized by lower limb muscle weakness and atrophy associated with distal sensory impairment and gait difficulties. Some patients also have involvement of the upper limbs. Onset usually occurs in the first 2 decades of life, although later onset can also occur (summary by Montecchiani et al., 2016)For a phenotypic description and a discussion of genetic heterogeneity of axonal CMT, see CMT2A1 (OMIM ).

AUTOSOMAL RECESSIVE CHARCOT-MARIE-TOOTH DISEASE TYPE 2X Is also known as autosomal recessive charcot-marie-tooth disease type 2 due to spg11 mutation|charcot-marie-tooth disease, axonal, autosomal recessive, type 2x|charcot-marie-tooth neuropathy, type 2x|cmt2x|arcmt2x

Related symptoms:

  • Muscle weakness
  • Spasticity
  • Cognitive impairment
  • Flexion contracture
  • Peripheral neuropathy


SOURCES: ORPHANET OMIM MENDELIAN

More info about AUTOSOMAL RECESSIVE CHARCOT-MARIE-TOOTH DISEASE TYPE 2X

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

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

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

Early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome is a genetic neurodegenerative disease characterized by normal early development followed by childhood onset optic atrophy with progressive vision loss and eventually blindness, followed by progressive neurological decline that typically includes cerebellar ataxia, nystagmus, dorsal column dysfunction (decreased vibration and position sense), spastic paraplegia and finally tetraparesis.

EARLY-ONSET PROGRESSIVE NEURODEGENERATION-BLINDNESS-ATAXIA-SPASTICITY SYNDROME Is also known as ndgoa|neurodegeneration with optic atrophy, childhood-onset

Related symptoms:

  • Seizures
  • Ataxia
  • Nystagmus
  • Spasticity
  • Cognitive impairment


SOURCES: ORPHANET OMIM MENDELIAN

More info about EARLY-ONSET PROGRESSIVE NEURODEGENERATION-BLINDNESS-ATAXIA-SPASTICITY SYNDROME

Top 5 symptoms//phenotypes associated to Flexion contracture and Pes cavus

Symptoms // Phenotype % cases
Peripheral neuropathy Common - Between 50% and 80% cases
Muscle weakness Common - Between 50% and 80% cases
Distal sensory impairment Common - Between 50% and 80% cases
Skeletal muscle atrophy Common - Between 50% and 80% cases
Areflexia Common - Between 50% and 80% cases

Other less frequent symptoms

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

Common Symptoms - More than 50% cases

Peripheral axonal neuropathy

Uncommon Symptoms - Between 30% and 50% cases

Distal amyotrophy Distal muscle weakness Onion bulb formation Decreased number of peripheral myelinated nerve fibers Foot dorsiflexor weakness Sensory impairment Spasticity Babinski sign Hyporeflexia Sensorimotor neuropathy Generalized hypotonia Sensory axonal neuropathy Cognitive impairment Fasciculations Difficulty walking Scoliosis Motor delay Abnormality of the foot Limb muscle weakness Spastic paraplegia Axonal degeneration Paraplegia

Rare Symptoms - Less than 30% cases

Proximal muscle weakness Global developmental delay Tremor Ataxia Hammertoe Nystagmus Lower limb muscle weakness Cerebral atrophy Pain Hearing impairment Ankle contracture Clonus Optic atrophy Brisk reflexes Myokymia Knee flexion contracture Spastic gait Gait disturbance Talipes equinovarus Inability to walk Peripheral demyelination Steppage gait Decreased number of large peripheral myelinated nerve fibers Paralysis Decreased motor nerve conduction velocity Hyperreflexia Dysarthria Split hand Sensory neuropathy Visual loss Motor axonal neuropathy Hyperreflexia proximally Facial myokymia Exaggerated startle response Hyporeflexia of lower limbs Distal lower limb amyotrophy Impaired vibration sensation in the lower limbs Abnormal pyramidal sign Dysmetria Intention tremor Neurodegeneration Progressive visual loss Progressive spastic paraplegia Multiple joint contractures Delayed gross motor development Hypertonia Seizures Muscle cramps Myotonia Cerebellar atrophy Neck flexor weakness Tetraparesis Distal lower limb muscle weakness High pitched voice Horizontal nystagmus Pes planus Myopia Dysphonia Ankle clonus Abnormality of extrapyramidal motor function Titubation Pectus carinatum Upper limb spasticity Gaze-evoked horizontal nystagmus Urinary incontinence Hypoplasia of the corpus callosum Optic disc pallor Mental deterioration Poor fine motor coordination Absent Achilles reflex Bulbar palsy Progressive spasticity Impaired vibratory sensation Spastic paraparesis Axonal degeneration/regeneration Flexion contracture of finger Vocal cord paresis Spinal deformities Hoarse voice Ulnar claw Achilles tendon contracture Upper limb muscle weakness EMG: neuropathic changes Hyperactive patellar reflex Unsteady gait Hyperhidrosis Broad-based gait Kyphosis Dystonia Slender build Abnormal cranial nerve morphology Vocal cord paralysis Tracheomalacia Decreased muscle mass Polyneuropathy Falls Muscular hypotonia of the trunk Respiratory distress Respiratory insufficiency Abnormality of the hand Kyphoscoliosis Areflexia of lower limbs Frequent falls Head titubation


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