Generalized hypotonia, and Falls

Diseases related with Generalized hypotonia and Falls

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

Top matches:

Congenital myopathy with internal nuclei and atypical cores is a rare genetic skeletal muscle disease characterized by neonatal hypotonia, distal more than proximal muscle weakness, progressive exercise intolerance with prominent myalgias, and mild-to-moderate overall motor impairment with preserved ambulation. Face, extraocular, cardiac, and respiratory muscles are unaffected. Mild cognitive impairment is also noted in most patients.

CONGENITAL MYOPATHY WITH INTERNAL NUCLEI AND ATYPICAL CORES Is also known as cnm4|centronuclear myopathy type 4

Related symptoms:

  • Generalized hypotonia
  • Muscle weakness
  • Cognitive impairment
  • Fatigue
  • Myopathy


SOURCES: ORPHANET OMIM MENDELIAN

More info about CONGENITAL MYOPATHY WITH INTERNAL NUCLEI AND ATYPICAL CORES

Congenital myasthenic syndrome-13 is an autosomal recessive neuromuscular disorder characterized by onset of proximal muscle weakness in the first decade. EMG classically shows a decremental response to repeated nerve stimulation. Affected individuals show a favorable response to acetylcholinesterase (AChE) inhibitors (summary by Belaya et al., 2012).For a discussion of genetic heterogeneity of CMS, see CMS1A (OMIM ).

MYASTHENIC SYNDROME, CONGENITAL, 13; CMS13 Is also known as myasthenic syndrome, congenital, with tubular aggregates 2|cmsta2

Related symptoms:

  • Generalized hypotonia
  • Scoliosis
  • Muscle weakness
  • Ptosis
  • Motor delay


SOURCES: OMIM MENDELIAN

More info about MYASTHENIC SYNDROME, CONGENITAL, 13; CMS13

Infantile-onset limb and orofacial dyskinesia is an autosomal recessive neurologic disorder characterized by delayed motor development and onset of a hyperkinetic movement disorder in the first year of life. The disorder results in impaired walking and orofacial dyskinesia with difficulty talking; the severity is variable (summary by Diggle et al., 2016).

INFANTILE-ONSET GENERALIZED DYSKINESIA WITH OROFACIAL INVOLVEMENT Is also known as infantile-onset orofacial-trunk-limbs dyskinesia

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Muscle weakness
  • Feeding difficulties
  • Motor delay


SOURCES: OMIM ORPHANET MENDELIAN

More info about INFANTILE-ONSET GENERALIZED DYSKINESIA WITH OROFACIAL INVOLVEMENT

Other less relevant matches:

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

Nemaline myopathy-7 is an autosomal recessive congenital myopathy characterized by very early onset of hypotonia and delayed motor development. Affected individuals have difficulty walking and running due to proximal muscle weakness. The disorder is slowly progressive, and patients may lose independent ambulation. Muscle biopsy shows nemaline rods and may later show minicores, abnormal protein aggregates, and dystrophic changes (summary by Ockeloen et al., 2012).For a discussion of genetic heterogeneity of nemaline myopathy, see {161800}.

Related symptoms:

  • Generalized hypotonia
  • Muscle weakness
  • Muscular hypotonia
  • High palate
  • Motor delay


SOURCES: MESH OMIM MENDELIAN

More info about NEMALINE MYOPATHY 7; NEM7

PSYCHOMOTOR REGRESSION-OCULOMOTOR APRAXIA-MOVEMENT DISORDER-NEPHROPATHY SYNDROME Is also known as cerebrorenal syndrome, perez type

Related symptoms:

  • Intellectual disability
  • Generalized hypotonia
  • Ataxia
  • Strabismus
  • Muscle weakness


SOURCES: OMIM ORPHANET MENDELIAN

More info about PSYCHOMOTOR REGRESSION-OCULOMOTOR APRAXIA-MOVEMENT DISORDER-NEPHROPATHY SYNDROME

Autosomal recessive spinocerebellar ataxia-17 is a neurologic disorder characterized by onset of gait ataxia and cerebellar signs in early childhood. Patients also have variable intellectual disability (summary by Evers et al., 2016).

AUTOSOMAL RECESSIVE CEREBELLAR ATAXIA DUE TO CWF19L1 DEFICIENCY Is also known as scar17|spinocerebellar ataxia autosomal recessive type 17

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about AUTOSOMAL RECESSIVE CEREBELLAR ATAXIA DUE TO CWF19L1 DEFICIENCY

Paroxysmal exertion-induced dyskinesia (PED) is a form of paroxysmal dyskinesia (see this term), characterized by painless attacks of dystonia of the extremities triggered by prolonged physical activities.

PAROXYSMAL EXERTION-INDUCED DYSKINESIA Is also known as ped with or without epilepsy and/or hemolytic anemia|paroxysmal exertion-induced dystonia with or without epilepsy and/or hemolytic anemia|dyt18|dystonia 18|ped|paroxysmal exercise-induced dyskinesia with or without epilepsy and/or hemolytic anemia

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about PAROXYSMAL EXERTION-INDUCED DYSKINESIA

Autosomal recessive axonal CMT2A2B is a neurologic disorder characterized by onset of peripheral neuropathy in the first years of life. Patients have difficulty walking due to distal muscle weakness; upper limbs may also be affected. Sensory impairment is more variable. Patients often have optic atrophy (summary by Polke et al., 2011).

Related symptoms:

  • Generalized hypotonia
  • Hearing impairment
  • Scoliosis
  • Failure to thrive
  • Muscle weakness


SOURCES: OMIM MENDELIAN

More info about CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL RECESSIVE, TYPE 2A2B; CMT2A2B

Hypomyelinating leukodystrophy-8 is an autosomal recessive neurologic disorder characterized by early childhood onset of cerebellar ataxia and mild intellectual disabilities associated with diffuse hypomyelination apparent on brain MRI. Variable features include oligodontia and/or hypogonadotropic hypogonadism (summary by Tetreault et al., 2011).See also HLD7 (OMIM ), which has similar features and is caused by mutation in the POLR3A gene (OMIM ) on chromosome 10q22. The POLR3A and POLR3B genes encode the 2 largest subunits of RNA polymerase III.For a general phenotypic description and a discussion of genetic heterogeneity of hypomyelinating leukodystrophy, see {312080}.

Related symptoms:

  • Intellectual disability
  • Short stature
  • Generalized hypotonia
  • Ataxia
  • Nystagmus


SOURCES: OMIM MENDELIAN

More info about LEUKODYSTROPHY, HYPOMYELINATING, 8, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM; HLD8

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

Symptoms // Phenotype % cases
Frequent falls Common - Between 50% and 80% cases
Muscle weakness Common - Between 50% and 80% cases
Dysarthria Uncommon - Between 30% and 50% cases
Ataxia Uncommon - Between 30% and 50% cases
Intellectual disability Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Motor delay Difficulty walking Proximal muscle weakness Myopathy Horizontal nystagmus Gait ataxia Dyskinesia Abnormality of movement Areflexia Tremor Intention tremor Respiratory insufficiency due to muscle weakness Dystonia Poor head control Cognitive impairment Scoliosis Hyperreflexia Dysmetria

Rare Symptoms - Less than 30% cases

Babinski sign Gowers sign Progressive muscle weakness Kyphoscoliosis Slurred speech Neck muscle weakness Facial palsy Abnormal cerebellum morphology Foot dorsiflexor weakness Delayed gross motor development Cerebellar atrophy Nystagmus Hyporeflexia Respiratory insufficiency Truncal ataxia Global developmental delay Ptosis Seizures Choreoathetosis Muscular hypotonia of the trunk Unsteady gait Chorea Apraxia Focal-onset seizure Intellectual disability, mild Intellectual disability, moderate Spasticity Oculomotor apraxia Gait disturbance Microcephaly Migraine without aura Paroxysmal dyskinesia Limb dysmetria Paroxysmal dystonia Hyperactive deep tendon reflexes Abnormality of the head Hemiplegia Generalized-onset seizure Involuntary movements Lower limb spasticity Limb ataxia Progressive microcephaly Absence seizures Focal impaired awareness seizure Torsion dystonia Impulsivity Atonic seizures Focal aware seizure Reticulocytosis Hand tremor Action tremor Episodic ataxia Jerky head movements Talipes Upper limb dysmetria Leukodystrophy Short stature Myopia Dysphagia Hypoplasia of the corpus callosum Hypogonadism Delayed eruption of teeth Hypodontia Hypogonadotrophic hypogonadism Spinal deformities Oligodontia CNS hypomyelination Dysdiadochokinesis Progressive spasticity Motor deterioration Cerebral hypomyelination Delayed eruption of primary teeth Wrist drop Decreased nerve conduction velocity Hypoglycorrhachia Visual loss Generalized tonic-clonic seizures without focal onset Hearing impairment Failure to thrive Peripheral neuropathy Optic atrophy Talipes equinovarus Kyphosis Pes cavus Increased body weight Distal muscle weakness Abnormality of the cerebral white matter Migraine Peripheral axonal neuropathy Distal sensory impairment Sensory impairment Optic disc pallor Sensorimotor neuropathy Specific learning disability Synophrys Hemolytic anemia Increased variability in muscle fiber diameter Renal insufficiency Hypertension Strabismus Minicore myopathy Myofibrillar myopathy Nemaline bodies Waddling gait Joint hypermobility High palate Muscular hypotonia Progressive proximal muscle weakness Rimmed vacuoles Spinal rigidity Rigidity Developmental regression Respiratory failure Elevated serum creatine phosphokinase Flexion contracture Nasogastric tube feeding in infancy Hemiballismus Orofacial dyskinesia Hyperkinesis Drooling Brain atrophy Feeding difficulties Centrally nucleated skeletal muscle fibers Myalgia Neonatal hypotonia Fatigue Abnormality of the eye Abnormality of eye movement Paresthesia Hemivertebrae Generalized tonic-clonic seizures Irritability Mental deterioration Aggressive behavior EEG abnormality Myoclonus Cerebral atrophy Anemia Abnormality of the distal phalanx of the thumb Monotonic speech Thoracic hemivertebrae Nonprogressive cerebellar ataxia Mild microcephaly Infantile muscular hypotonia Clumsiness Stage 5 chronic kidney disease Cerebellar vermis hypoplasia Thick eyebrow Agenesis of corpus callosum Cerebellar hypoplasia Delayed speech and language development Camptocormia Hyperechogenic kidneys Tubulointerstitial nephritis Loss of speech Limb hypertonia Hyperkalemia Nephritis Amblyopia Nephropathy Impaired horizontal smooth pursuit


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