Generalized hypotonia, and Areflexia

Diseases related with Generalized hypotonia and Areflexia

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

Top matches:

MTDPS12A is characterized by severe hypotonia due to mitochondrial dysfunction apparent at birth. Affected infants have respiratory insufficiency requiring mechanical ventilation and have poor or no motor development. Many die in infancy, and those that survive have profound hypotonia with significant muscle weakness and inability to walk independently. Some patients develop hypertrophic cardiomyopathy. Muscle samples show mtDNA depletion and severe combined mitochondrial respiratory chain deficiencies (summary by Thompson et al., 2016).For a discussion of genetic heterogeneity of mtDNA depletion syndromes, see MTDPS1 (OMIM ).

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Muscle weakness
  • Respiratory insufficiency
  • Cardiomyopathy


SOURCES: OMIM MENDELIAN

More info about MITOCHONDRIAL DNA DEPLETION SYNDROME 12A (CARDIOMYOPATHIC TYPE), AUTOSOMAL DOMINANT; MTDPS12A

Young adult-onset distal hereditary motor neuropathy is a rare autosomal recessive distal hereditary motor neuropathy characterized by slowly progressive muscular weakness, hypotonia and atrophy of the lower limbs, more pronounced distally, leading to paralysis, and loss of tendon reflexes. Additional features may include pes cavus and mild dysphonia. The upper limbs are relatively spared.

YOUNG ADULT-ONSET DISTAL HEREDITARY MOTOR NEUROPATHY Is also known as young adult-onset dhmn|autosomal recessive distal spinal muscular atrophy type 5|dsma5

Related symptoms:

  • Generalized hypotonia
  • Muscle weakness
  • Peripheral neuropathy
  • Skeletal muscle atrophy
  • Gait disturbance


SOURCES: ORPHANET OMIM MENDELIAN

More info about YOUNG ADULT-ONSET DISTAL HEREDITARY MOTOR NEUROPATHY

Adenosine monophosphate (AMP) deaminase deficiency is a metabolic disorder for which two forms have been described. Lack of activity of the erythrocyte isoform of AMP deaminase has been described in subjects with low plasma uric acid levels without obvious clinical relevance and will not be described further. Myoadenylate deaminase deficiency is an inherited disorder of muscular energy metabolism with a lack of AMP deaminase activity in skeletal muscle. It is characterised by exercise-induced muscle pain, cramps and/or early fatigue.

ADENOSINE MONOPHOSPHATE DEAMINASE DEFICIENCY Is also known as ampd1 deficiency|amp deaminase deficiency|myoadenylate deaminase deficiency, myopathy due to|adenosine monophosphate deaminase-1 deficiency, myopathy due to|myoadenylate deaminase deficiency

Related symptoms:

  • Generalized hypotonia
  • Muscle weakness
  • Pain
  • Skeletal muscle atrophy
  • Macrocephaly


SOURCES: ORPHANET OMIM MENDELIAN

More info about ADENOSINE MONOPHOSPHATE DEAMINASE DEFICIENCY

Other less relevant matches:

Autosomal recessive Charcot-Marie-Tooth disease with hoarseness (ARCMT2K or CMT4C4) is a severe early-onset form of axonal CMT peripheral sensorimotor polyneuropathy.

AUTOSOMAL RECESSIVE CHARCOT-MARIE-TOOTH DISEASE WITH HOARSENESS Is also known as autosomal recessive axonal charcot-marie-tooth disease type 2k|autosomal recessive axonal cmt4c4|charcot-marie-tooth disease, axonal, autosomal recessive, type 2k|arcmt2k|charcot-marie-tooth neuropathy, axonal, type 2k

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Muscle weakness
  • Peripheral neuropathy
  • Skeletal muscle atrophy


SOURCES: ORPHANET OMIM MENDELIAN

More info about AUTOSOMAL RECESSIVE CHARCOT-MARIE-TOOTH DISEASE WITH HOARSENESS

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

Medium match PIERSON SYNDROME

Pierson syndrome is characterised by the association of congenital nephrotic syndrome and ocular anomalies with microcoria.

PIERSON SYNDROME Is also known as microcoria-congenital nephrotic syndrome|microcoria-congenital nephrosis syndrome

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Muscular hypotonia
  • Visual impairment
  • Edema


SOURCES: OMIM ORPHANET MENDELIAN

More info about PIERSON SYNDROME

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

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

Charcot-Marie-Tooth disease type 2S is a relatively pure form of autosomal recessive axonal neuropathy characterized by onset in the first decade of slowly progressive distal muscle weakness and atrophy affecting the lower and upper limbs. Patients have decreased reflexes and variable distal sensory impairment (summary by Cottenie et al., 2014).For a phenotypic description and a discussion of genetic heterogeneity of axonal CMT, see CMT2A1 (OMIM ).

CHARCOT-MARIE-TOOTH DISEASE TYPE 2S Is also known as charcot-marie-tooth neuropathy, type 2s|cmt2s|charcot-marie-tooth disease, axonal, autosomal recessive, type 2s

Related symptoms:

  • Generalized hypotonia
  • Scoliosis
  • Muscle weakness
  • Motor delay
  • Peripheral neuropathy


SOURCES: OMIM ORPHANET MENDELIAN

More info about CHARCOT-MARIE-TOOTH DISEASE TYPE 2S

CHARCOT-MARIE-TOOTH DISEASE TYPE 1A Is also known as cmt1a|microduplication 17p12|charcot-marie-tooth neuropathy, type 1f

Related symptoms:

  • Intellectual disability
  • Generalized hypotonia
  • Muscle weakness
  • Motor delay
  • Peripheral neuropathy


SOURCES: OMIM ORPHANET MENDELIAN

More info about CHARCOT-MARIE-TOOTH DISEASE TYPE 1A

Top 5 symptoms//phenotypes associated to Generalized hypotonia and Areflexia

Symptoms // Phenotype % cases
Muscle weakness Very Common - Between 80% and 100% cases
Gait disturbance Common - Between 50% and 80% cases
Distal muscle weakness Common - Between 50% and 80% cases
Hyporeflexia Common - Between 50% and 80% cases
Skeletal muscle atrophy Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Generalized hypotonia and Areflexia. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Distal sensory impairment Pes cavus Peripheral neuropathy Limb muscle weakness Myopathy Proximal muscle weakness Motor delay Peripheral axonal neuropathy Scoliosis Sensory impairment Foot dorsiflexor weakness Difficulty walking Respiratory insufficiency Distal amyotrophy

Rare Symptoms - Less than 30% cases

Hand muscle atrophy Axonal regeneration Progressive distal muscle weakness Steppage gait Global developmental delay Elevated serum creatine phosphokinase Progressive muscle weakness Increased variability in muscle fiber diameter Talipes equinovarus Paresthesia Visual loss Kyphoscoliosis Lower limb muscle weakness Abnormal pyramidal sign Abnormality of the foot Respiratory insufficiency due to muscle weakness Flexion contracture Decreased motor nerve conduction velocity Decreased number of peripheral myelinated nerve fibers Infantile muscular hypotonia Spastic paraplegia Spastic paraparesis Knee flexion contracture Spastic gait Paraplegia Seizures Mental deterioration Centrally nucleated skeletal muscle fibers Posterior lenticonus Hypoplasia of the ciliary body Facial palsy Hyperlordosis Waddling gait Scapular winging Reduced tendon reflexes Nemaline bodies Babinski sign Achilles tendon contracture Neck flexor weakness Muscle fiber atrophy Wrist drop Spasticity Hyperreflexia Dysarthria Increased connective tissue Hyperactive patellar reflex Impaired vibratory sensation Cerebellar atrophy Spontaneous pain sensation Acute demyelinating polyneuropathy Shoulder pain Myelin outfoldings Decreased sensory nerve conduction velocity Segmental peripheral demyelination/remyelination Diaphragmatic weakness Progressive peripheral neuropathy Sensory ataxia Gait imbalance Demyelinating peripheral neuropathy Hyperactive deep tendon reflexes Onion bulb formation Calf muscle hypertrophy Intellectual disability Brisk reflexes Flexion contracture of finger Progressive spasticity Bulbar palsy Ankle contracture Absent Achilles reflex Poor fine motor coordination Lenticonus Paralysis Diaphragmatic paralysis Sensorimotor neuropathy Toe walking Sensory axonal neuropathy Axonal degeneration Achalasia Abnormality of the tongue Microcoria Rimmed vacuoles Congenital nephrotic syndrome Pain Increased muscle fatiguability Exercise-induced myalgia Chronic fatigue Rhabdomyolysis Easy fatigability Increased serum lactate Muscle cramps Stroke Myalgia Neonatal hypotonia Fatigue Macrocephaly Peroneal muscle atrophy Elevated creatine kinase after exercise Motor axonal neuropathy Spinal muscular atrophy Dysphonia Sensory neuropathy Cerebral white matter atrophy Organic aciduria Abnormality of mitochondrial metabolism Inability to walk Lactic acidosis Hypertrophic cardiomyopathy Acidosis Cardiomyopathy Exercise-induced muscle fatigue Peripheral demyelination Diffuse mesangial sclerosis Edema Buphthalmos Hypoproteinemia Hypoplasia of the iris Severe vision loss Neurodevelopmental delay Severe muscular hypotonia Nephrotic syndrome Stage 5 chronic kidney disease Abnormality of the nervous system Proteinuria Renal insufficiency Blindness Visual impairment Split hand Muscular hypotonia Progressive proximal muscle weakness Neck muscle weakness Spinal rigidity Gowers sign Poor head control Frequent falls Falls Rigidity Respiratory failure Vocal cord paresis Abnormal cranial nerve morphology Decreased nerve conduction velocity Clusters of axonal regeneration


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