Flexion contracture, and Sensory neuropathy

Diseases related with Flexion contracture and Sensory neuropathy

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

Top matches:

Autosomal recessive spastic paraplegia type 61 (SPG61) is a rare, complex form of hereditary spastic paraplegia characterized by an onset in infancy of spastic paraplegia (presenting with the inability to walk unsupported and a scissors gait) associated with a motor and sensory polyneuropathy with loss of terminal digits and acropathy. SPG61 is due to a mutation in the ARL6IP1 gene (16p12-p11.2) encoding the ADP-ribosylation factor-like protein 6-interacting protein 1.

AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 61 Is also known as spg61

Related symptoms:

  • Spasticity
  • Peripheral neuropathy
  • Difficulty walking
  • Spastic paraplegia
  • Paraplegia


SOURCES: OMIM ORPHANET MENDELIAN

More info about AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 61

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

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

Other less relevant matches:

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

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

LEUKODYSTROPHY, HYPOMYELINATING, 2; HLD2 Is also known as pelizaeus-merzbacher-like disease, 1|pmld1

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about LEUKODYSTROPHY, HYPOMYELINATING, 2; HLD2

Distal arthrogryposis with impaired proprioception and touch is an autosomal recessive neurologic disorder characterized by loss of certain mechanosensation modalities resulting in ataxia, difficulty walking, dysmetria, muscle weakness and atrophy, and progressive skeletal contractures. Patients have onset of symptoms in early childhood (summary by Chesler et al., 2016 and Delle Vedove et al., 2016).

Related symptoms:

  • Short stature
  • Generalized hypotonia
  • Scoliosis
  • Ataxia
  • Muscle weakness


SOURCES: OMIM MENDELIAN

More info about ARTHROGRYPOSIS, DISTAL, WITH IMPAIRED PROPRIOCEPTION AND TOUCH; DAIPT

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

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 Flexion contracture and Sensory neuropathy

Symptoms // Phenotype % cases
Peripheral neuropathy Very Common - Between 80% and 100% cases
Areflexia Common - Between 50% and 80% cases
Spasticity Uncommon - Between 30% and 50% cases
Sensory axonal neuropathy Uncommon - Between 30% and 50% cases
Skeletal muscle atrophy Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Cognitive impairment Sensorimotor neuropathy Motor delay Global developmental delay Peripheral axonal neuropathy Scoliosis Muscle weakness Gait disturbance Generalized hypotonia Pes cavus Difficulty walking Babinski sign Ataxia Distal sensory impairment Paresthesia Hypertonia Paraplegia Respiratory insufficiency Spastic paraplegia Distal muscle weakness Distal amyotrophy Proximal muscle weakness Fasciculations Limb muscle weakness Sensory impairment Pain Lower limb muscle weakness Dysarthria

Rare Symptoms - Less than 30% cases

Foot dorsiflexor weakness Intellectual disability, moderate Talipes equinovarus Nystagmus Dystonia Hyperhidrosis Impaired vibration sensation in the lower limbs Seizures Hearing impairment Urinary incontinence Spastic gait Clonus Impaired vibratory sensation Intellectual disability High palate Feeding difficulties Distal lower limb amyotrophy Optic atrophy Abnormality of the foot Onion bulb formation Elevated serum creatine phosphokinase Unsteady gait Peripheral demyelination Hyporeflexia Polyneuropathy Decreased motor nerve conduction velocity Distal arthrogryposis Ankle contracture Inability to walk Tremor Camptodactyly Short chin Poor head control Sandal gap Joint contracture of the hand Progressive spasticity Broad-based gait Hip dysplasia Congenital nystagmus Dysmetria Arachnodactyly Arthrogryposis multiplex congenita Pes planus Thin upper lip vermilion Pendular nystagmus Hand clenching Abnormality of the skeletal system Wide nasal bridge Corneal scarring Alacrima Short stature Demyelinating motor neuropathy Limited hip extension Head titubation Cerebral hypomyelination Rotary nystagmus Bradycardia Impaired proprioception Myopathic facies Urinary urgency Growth delay Knee clonus Low-set ears Spastic paraparesis Fever Upper limb spasticity Neonatal hypotonia Upper motor neuron dysfunction Areflexia of lower limbs Varicose veins Urinary bladder sphincter dysfunction Ankle clonus Lower limb hyperreflexia Apnea Long nose Lower limb spasticity Parkinsonism Small hand Scarring Tachycardia Mental deterioration Rod-cone dystrophy Hyperreflexia Open mouth Impaired tactile sensation Sensory ataxia Ankle weakness Delayed ability to walk Narrow nasal bridge CNS hypomyelination Myopathy Leukodystrophy Abnormality of the hand Muscle cramps Abnormal pyramidal sign Hyperreflexia proximally Exaggerated startle response Hyporeflexia of lower limbs Motor axonal neuropathy Decreased number of peripheral myelinated nerve fibers Progressive spastic paraplegia Multiple joint contractures Delayed gross motor development Abnormality of extrapyramidal motor function Optic disc pallor Kyphosis Kyphoscoliosis Dysphonia Hypoplasia of the corpus callosum Peripheral hypomyelination Axonal loss Difficulty climbing stairs Decreased nerve conduction velocity Frequent falls Falls Paralysis Hyperactive patellar reflex Abnormality of the Achilles tendon Scissor gait Motor polyneuropathy Abnormality of the knee Absent Achilles reflex Split hand Hammertoe Choreoathetosis Myotonia Intention tremor Poor speech Facial palsy Muscular hypotonia of the trunk Rigidity Cerebral atrophy Myopia Periodic hyperkalemic paralysis Episodic flaccid weakness Malignant hyperthermia Bowel incontinence Hyperkalemia Skeletal muscle hypertrophy Ophthalmoparesis Hyponatremia Brisk reflexes Hypokalemia Cerebral palsy Reduced tendon reflexes EMG abnormality Chest pain Feeding difficulties in infancy Myalgia Arrhythmia Congestive heart failure Neck flexor weakness Decreased number of large peripheral myelinated nerve fibers Myokymia Distal lower limb muscle weakness High pitched voice Blotching pigmentation of the skin


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