Peripheral neuropathy, and Flexion contracture

Diseases related with Peripheral neuropathy and Flexion contracture

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


Top matches:

Low match KLHL9-RELATED EARLY-ONSET DISTAL MYOPATHY


KLHL9-related early-onset distal myopathy is a rare, genetic distal myopathy characterized by slowly progressive distal limb muscle weakness and atrophy (beginning with anterior tibial muscle involvement followed by the intrinsic hand muscles) in association with reduced sensation in a stocking-glove distribution. Patients present with high stepping gait, ankle areflexia and contractures in the first to second decade of life, associated with marked ankle extensor muscle atrophy; later proximal muscle involvement is moderate and ambulation is preserved throughout the life.

Related symptoms:


SOURCES: ORPHANET MENDELIAN

More info about KLHL9-RELATED EARLY-ONSET DISTAL MYOPATHY

Low match CARPAL TUNNEL SYNDROME; CTS1


entrapment of the median nerve in the carpal tunnel, which is formed by the flexor retinaculum and the carpal bones; this syndrome may be associated with repetitive occupational trauma, wrist injuries, amyloid neuropathies, rheumatoid arthritis, acromegaly, pregnancy, and other conditions; symptoms include burning pain and paresthesias involving the ventral surface of the hand and fingers which may radiate proximally; impairment of sensation in the distribution of the median nerve and thenar muscle atrophy may occur.

CARPAL TUNNEL SYNDROME; CTS1 Is also known as cts|amyotrophy, thenar, of carpal origin

Related symptoms:

  • Pain
  • Peripheral neuropathy
  • Skeletal muscle atrophy
  • Scarring
  • Abnormal autonomic nervous system physiology


SOURCES: OMIM MENDELIAN

More info about CARPAL TUNNEL SYNDROME; CTS1

Low match PROGRESSIVE POLYNEUROPATHY WITH BILATERAL STRIATAL NECROSIS


Progressive polyneuropathy with bilateral striatal necrosis is a rare, genetic disorder of thiamine metabolism and transport characterized by the childhood-onset of recurrent episodes of flaccid paralysis and encephalopathy, associated with bilateral striatal necrosis and chronic progressive axonal polyneuropathy with proximal and distal muscle weakness, areflexia, contractures and foot deformities.

PROGRESSIVE POLYNEUROPATHY WITH BILATERAL STRIATAL NECROSIS Is also known as striatal necrosis, bilateral, and progressive polyneuropathy|bilateral striatal degeneration and progressive polyneuropathy

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about PROGRESSIVE POLYNEUROPATHY WITH BILATERAL STRIATAL NECROSIS

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Other less relevant matches:

Low match AUTOSOMAL RECESSIVE INTERMEDIATE CHARCOT-MARIE-TOOTH DISEASE TYPE A


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

Low match ADENYLOSUCCINATE SYNTHETASE-LIKE 1-RELATED DISTAL MYOPATHY


Distal myopathy-5 is an autosomal recessive, slowly progressive muscle disorder characterized by adolescent onset of distal muscle weakness and atrophy predominantly affecting the lower limbs. Other features include facial weakness and hyporeflexia. Patients remain ambulatory even after long disease duration (summary by Park et al., 2016).

ADENYLOSUCCINATE SYNTHETASE-LIKE 1-RELATED DISTAL MYOPATHY Is also known as adssl1-related distal myopathy

Related symptoms:

  • Muscle weakness
  • Flexion contracture
  • High palate
  • Myopathy
  • Hyporeflexia


SOURCES: OMIM ORPHANET MENDELIAN

More info about ADENYLOSUCCINATE SYNTHETASE-LIKE 1-RELATED DISTAL MYOPATHY

Low match CHARCOT-MARIE-TOOTH DISEASE, AXONAL, WITH VOCAL CORD PARESIS, AUTOSOMAL RECESSIVE


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

Low match AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 61


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

Low match CHARCOT-MARIE-TOOTH DISEASE TYPE 4J


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

Low match AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 43


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

Low match AUTOSOMAL RECESSIVE INTERMEDIATE CHARCOT-MARIE-TOOTH DISEASE TYPE D


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

Top 5 symptoms//phenotypes associated to Peripheral neuropathy and Flexion contracture

Symptoms // Phenotype % cases
Muscle weakness Common - Between 50% and 80% cases
Hyporeflexia Common - Between 50% and 80% cases
Distal muscle weakness Common - Between 50% and 80% cases
Distal sensory impairment Uncommon - Between 30% and 50% cases
Skeletal muscle atrophy Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Areflexia Distal amyotrophy Pes cavus Onion bulb formation Abnormality of the foot Sensory impairment Frequent falls Polyneuropathy Falls Peripheral demyelination Peripheral axonal neuropathy Pain Difficulty walking Paralysis

Rare Symptoms - Less than 30% cases


Absent Achilles reflex Gait disturbance Ankle contracture Decreased number of peripheral myelinated nerve fibers Axonal degeneration Steppage gait Foot dorsiflexor weakness Unsteady gait Inability to walk Elevated serum creatine phosphokinase Decreased motor nerve conduction velocity Hyperactive patellar reflex Spasticity Spastic paraplegia Paraplegia Dysarthria Talipes equinovarus Motor delay Difficulty climbing stairs Global developmental delay Paresthesia Sensorimotor neuropathy Decreased nerve conduction velocity Cerebral atrophy Abnormality of the Achilles tendon Proximal muscle weakness Spastic paraparesis Axonal loss Progressive spasticity Impaired vibratory sensation Knee flexion contracture Spastic gait Mental deterioration Babinski sign Brisk reflexes Visual loss Distal arthrogryposis Bulbar palsy Scissor gait Poor fine motor coordination Flexion contracture of finger Hearing impairment Generalized hypotonia Peripheral hypomyelination Hyperreflexia Facial palsy Motor polyneuropathy EMG: neuropathic changes Scarring Abnormal autonomic nervous system physiology Amyloidosis Constrictive median neuropathy Pain insensitivity Digital flexor tenosynovitis Vitamin B6 deficiency Encephalopathy Lethargy Increased CSF lactate Limb joint contracture Contractures of the joints of the lower limbs Scoliosis Limb muscle weakness Upper limb muscle weakness Abnormality of the knee Hyporeflexia of lower limbs Sensory neuropathy Axonal degeneration/regeneration Vocal cord paresis Spinal deformities Hoarse voice Split hand Muscle fiber splitting Achilles tendon contracture Rimmed vacuoles Mildly elevated creatine phosphokinase Myopathy High palate Ulnar claw Decreased number of large peripheral myelinated nerve fibers Areflexia of lower limbs



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