Flexion contracture, and Areflexia

Diseases related with Flexion contracture and Areflexia

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

Top matches:

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

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

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

Other less relevant matches:

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

Congenital myasthenic syndrome-18 is an autosomal dominant presynaptic neuromuscular disorder characterized by early-onset muscle weakness and easy fatigability associated with delayed psychomotor development and ataxia (summary by Shen et al., 2014).For a discussion of genetic heterogeneity of CMS, see CMS1A (OMIM ).

MYASTHENIC SYNDROME, CONGENITAL, 18; CMS18 Is also known as myasthenic syndrome, congenital, 18, with intellectual disability and ataxia

Related symptoms:

  • Global developmental delay
  • Ataxia
  • Muscle weakness
  • Ptosis
  • Flexion contracture


SOURCES: OMIM MENDELIAN

More info about MYASTHENIC SYNDROME, CONGENITAL, 18; CMS18

Reducing-body myopathy (RBM) is a rare myopathy characterized pathologically by the presence of intracytoplasmic inclusion bodies strongly stained by menadione-linked alpha-glycerophosphate dehydrogenase (MAG) in the absence of substrate, alpha-glycerophosphate. The term 'reducing body' refers to the reducing activity of the inclusions to nitroblue tetrazolium (NBT) in the absence of substrate. This condition is also commonly associated with rimmed vacuoles and cytoplasmic bodies. The clinical features of RBM are variable; a severe form has onset in infancy or early childhood and results in severe disability or early death, and a less severe form has onset in late childhood or adulthood (RBMX1B ) (summary by Liewluck et al., 2007 and Shalaby et al., 2009).

Related symptoms:

  • Generalized hypotonia
  • Scoliosis
  • Muscle weakness
  • Flexion contracture
  • Motor delay


SOURCES: OMIM MENDELIAN

More info about REDUCING BODY MYOPATHY, X-LINKED 1A, SEVERE, WITH INFANTILE OR EARLY CHILDHOOD ONSET; RBMX1A

Related symptoms:

  • Scoliosis
  • Flexion contracture
  • High palate
  • Motor delay
  • Respiratory insufficiency


SOURCES: OMIM MENDELIAN

More info about ULLRICH CONGENITAL MUSCULAR DYSTROPHY 2; UCMD2

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

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

Scapulohumeroperoneal myopathy is an autosomal dominant muscle disorder characterized by slowly progressive muscle weakness and atrophy affecting both proximal and distal muscles of the upper and lower limbs. Onset is usually in the first decade and can be as early as infancy, although some patients do not notice symptoms until young adulthood. There is marked variability in severity (summary by Zukosky et al., 2015).

Related symptoms:

  • Generalized hypotonia
  • Scoliosis
  • Muscle weakness
  • Gait disturbance
  • Myopathy


SOURCES: OMIM ORPHANET MENDELIAN

More info about PROGRESSIVE SCAPULOHUMEROPERONEAL DISTAL MYOPATHY

Top 5 symptoms//phenotypes associated to Flexion contracture and Areflexia

Symptoms // Phenotype % 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 muscle weakness Uncommon - Between 30% and 50% cases
Scoliosis Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Polyneuropathy Onion bulb formation Distal sensory impairment Respiratory insufficiency Motor delay Frequent falls Falls Gait disturbance Paralysis Difficulty walking Peripheral demyelination

Rare Symptoms - Less than 30% cases

Axonal degeneration Myopathy Elevated serum creatine phosphokinase Proximal muscle weakness Global developmental delay Progressive muscle weakness Decreased motor nerve conduction velocity Achilles tendon contracture Increased variability in muscle fiber diameter Facial palsy Decreased number of peripheral myelinated nerve fibers Generalized hypotonia Dysarthria Talipes equinovarus Inability to walk Peripheral axonal neuropathy Foot dorsiflexor weakness Distal amyotrophy Abnormality of the foot Skeletal muscle atrophy Pes cavus Ankle contracture Distal arthrogryposis Axonal loss Difficulty climbing stairs Steppage gait Decreased nerve conduction velocity Sensorimotor neuropathy Peripheral hypomyelination Unsteady gait Pain Congenital muscular dystrophy Delayed gross motor development Joint hypermobility Paresthesia Paraplegia Spasticity Scapular winging Hand muscle atrophy Muscle fiber atrophy Increased connective tissue Neck flexor weakness Nemaline bodies Centrally nucleated skeletal muscle fibers Reduced tendon reflexes Waddling gait Spastic paraplegia Hyperlordosis Hyperactive patellar reflex Abnormality of the Achilles tendon Scissor gait Motor polyneuropathy Abnormality of the knee Absent Achilles reflex Sensory neuropathy Muscular dystrophy Neck muscle weakness Kyphoscoliosis Limb muscle weakness Contractures of the joints of the lower limbs Ptosis Ataxia Axonal degeneration/regeneration Vocal cord paresis Spinal deformities Hoarse voice EEG abnormality Split hand Ulnar claw Decreased number of large peripheral myelinated nerve fibers Upper limb muscle weakness EMG: neuropathic changes Sensory impairment Gait ataxia Poor speech High palate Encephalopathy Progressive proximal muscle weakness Rimmed vacuoles Spinal rigidity Gowers sign Poor head control Respiratory insufficiency due to muscle weakness Rigidity Decreased fetal movement Respiratory failure Lethargy Increased CSF lactate Limb joint contracture Multiple joint contractures Easy fatigability Wrist drop


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