Generalized hypotonia, and Waddling gait

Diseases related with Generalized hypotonia and Waddling gait

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

Top matches:

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

Congenital muscular dystrophy with integrin alpha-7 deficiency is a rare, genetic, congenital muscular dystrophy due to extracellular matrix protein anomaly characterized by early motor development delay and muscle weakness with mild elevation of serum creatine kinase, that may be followed by progressive disease course with predominantly proximal muscle weakness and atrophy, motor development regress, scoliosis and respiratory insufficiency.

CONGENITAL MUSCULAR DYSTROPHY WITH INTEGRIN ALPHA-7 DEFICIENCY Is also known as congenital muscular dystrophy with itga7 deficiency|myopathy, congenital, due to integrin alpha-7 deficiency

Related symptoms:

  • Intellectual disability
  • Generalized hypotonia
  • Scoliosis
  • Muscle weakness
  • Cognitive impairment


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about CONGENITAL MUSCULAR DYSTROPHY WITH INTEGRIN ALPHA-7 DEFICIENCY

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

Other less relevant matches:

CMTDIG is an autosomal dominant neurologic disorder with a highly variable phenotype. Most affected individuals have onset in the first or second decades of slowly progressive distal motor weakness and atrophy, resulting in gait instability and distal upper limb impairment, as well as distal sensory impairment. More severely affected individuals may have pes cavus and claw hands and become wheelchair-bound, whereas other affected individuals have later onset with a milder disease course. Electrophysiologic studies tend to show median motor nerve conduction velocities (NCV) in the 'intermediate' range, between 25 and 45 m/s (summary by Berciano et al., 2017).In a review of intermediate CMT, Berciano et al. (2017) noted that advanced axonal degeneration may induce secondary demyelinating changes resulting in decreased NCV and attenuated compound muscle action potential (CMAP) in median nerve conduction studies. They thus suggested that testing the upper arm, axilla to elbow, may provide more accurate assessment of NCV and CMAP and reveal an intermediate phenotype (review by Berciano et al., 2017).For a discussion of genetic heterogeneity of CMTDI, see {606482}.

Related symptoms:

  • Generalized hypotonia
  • Hearing impairment
  • Ataxia
  • Nystagmus
  • Muscle weakness


SOURCES: OMIM MENDELIAN

More info about CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE G; CMTDIG

CNM6 is an autosomal recessive, slowly progressive congenital myopathy with onset in infancy or early childhood. Patients may be hypotonic at birth, but all show delayed motor development and walking difficulties due to muscle weakness mainly affecting the proximal lower and upper limbs. Other features include scapular winging, scoliosis, and mildly decreased respiratory vital capacity. The phenotype and muscle biopsy abnormalities are variable, although centralized nuclei and fiber-type disproportion appear to be a common finding on muscle biopsy.For a discussion of genetic heterogeneity of centronuclear myopathy, see CNM1 (OMIM ).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MYOPATHY, CENTRONUCLEAR, 6, WITH FIBER-TYPE DISPROPORTION; CNM6

Related symptoms:

  • Generalized hypotonia
  • Scoliosis
  • Ptosis
  • Flexion contracture
  • High palate


SOURCES: ORPHANET MENDELIAN

More info about CONGENITAL MYASTHENIC SYNDROMES WITH GLYCOSYLATION DEFECT

Hereditary inclusion body myopathy type 3 is characterised by congenital joint contractures (normalizing during early childhood), external ophthalmoplegia, and proximal muscle weakness. In adult cases, the muscular weakness is progressive.

HEREDITARY INCLUSION BODY MYOPATHY-JOINT CONTRACTURES-OPHTHALMOPLEGIA SYNDROME Is also known as inclusion body myopathy type 3|ibm3|myopathy with congenital joint contractures, ophthalmoplegia, and rimmed vacuoles|hibm3|inclusion body myopathy 3, autosomal dominant, formerly|ibm3, formerly|mypop|hereditary inclusion body myopathy type 3

Related symptoms:

  • Generalized hypotonia
  • Scoliosis
  • Muscle weakness
  • Ptosis
  • Flexion contracture


SOURCES: ORPHANET OMIM MENDELIAN

More info about HEREDITARY INCLUSION BODY MYOPATHY-JOINT CONTRACTURES-OPHTHALMOPLEGIA SYNDROME

MYASTHENIC SYNDROME, CONGENITAL, 22; CMS22 Is also known as prepl deficiency

Related symptoms:

  • Intellectual disability
  • Short stature
  • Generalized hypotonia
  • Muscle weakness
  • Ptosis


SOURCES: OMIM MENDELIAN

More info about MYASTHENIC SYNDROME, CONGENITAL, 22; CMS22

Congenital myasthenic syndrome-14 is an autosomal recessive neuromuscular disorder characterized by onset of limb-girdle muscle weakness in early childhood. The disorder is slowly progressive, and some patients may become wheelchair-bound. There is no respiratory or cardiac involvement. Treatment with anticholinesterase medication may be beneficial (summary by Cossins et al., 2013).For a discussion of genetic heterogeneity of CMS, see CMS1A (OMIM ).

MYASTHENIC SYNDROME, CONGENITAL, 14; CMS14 Is also known as cmsta3|myasthenic syndrome, congenital, with tubular aggregates 3

Related symptoms:

  • Generalized hypotonia
  • Scoliosis
  • Muscle weakness
  • Ptosis
  • Flexion contracture


SOURCES: OMIM MENDELIAN

More info about MYASTHENIC SYNDROME, CONGENITAL, 14; CMS14

Megaconial-type congenital muscular dystrophy is an autosomal recessive disorder characterized by early-onset muscle wasting and mental retardation. Some patients develop fatal cardiomyopathy. Muscle biopsy shows peculiar enlarged mitochondria that are prevalent toward the periphery of the fibers but are sparse in the center (summary by Mitsuhashi et al., 2011).

MEGACONIAL CONGENITAL MUSCULAR DYSTROPHY Is also known as muscular dystrophy, congenital, with mitochondrial structural abnormalities|congenital megaconial myopathy|congenital muscular dystrophy due to phosphatidylcholine biosynthesis defect|congenital muscular dystrophy with mitochondrial structural abnormaliti

Related symptoms:

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


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about MEGACONIAL CONGENITAL MUSCULAR DYSTROPHY

Top 5 symptoms//phenotypes associated to Generalized hypotonia and Waddling gait

Symptoms // Phenotype % cases
Muscle weakness Very Common - Between 80% and 100% cases
Myopathy Very Common - Between 80% and 100% cases
Facial palsy Common - Between 50% and 80% cases
Motor delay Common - Between 50% and 80% cases
Proximal muscle weakness Common - Between 50% and 80% cases

Other less frequent symptoms

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

Common Symptoms - More than 50% cases

Scoliosis

Uncommon Symptoms - Between 30% and 50% cases

Distal muscle weakness

Common Symptoms - More than 50% cases

Gowers sign

Uncommon Symptoms - Between 30% and 50% cases

Scapular winging Elevated serum creatine phosphokinase Skeletal muscle atrophy Ptosis Areflexia Flexion contracture High palate Progressive muscle weakness Ragged-red muscle fibers Intellectual disability Limb-girdle muscle weakness Neonatal hypotonia Frequent falls Increased variability in muscle fiber diameter Gait disturbance Hyperlordosis Hyporeflexia

Rare Symptoms - Less than 30% cases

Increased connective tissue Lower limb muscle weakness Ophthalmoplegia Fatigable weakness Mildly elevated creatine phosphokinase Neck muscle weakness Muscle cramps Easy fatigability Falls Limb muscle weakness Difficulty walking Rimmed vacuoles Respiratory insufficiency Centrally nucleated skeletal muscle fibers Dysarthria Pes planus Congenital muscular dystrophy Nemaline bodies Infantile muscular hypotonia Respiratory insufficiency due to muscle weakness Joint laxity Lumbar hyperlordosis Muscular dystrophy Knee flexion contracture Foot dorsiflexor weakness Steppage gait Nasal speech External ophthalmoplegia Generalized muscle weakness Attention deficit hyperactivity disorder Respiratory distress Abnormal peripheral nervous system synaptic transmission Generalized weakness of limb muscles Favorable response of weakness to acetylcholine esterase inhibitors Increased jitter at single fibre EMG Myopathic facies Muscle fiber tubular inclusions EMG: decremental response of compound muscle action potential to repetitive nerve stimulation Congenital contracture Growth hormone deficiency Hand muscle weakness Difficulty standing Hyperactivity Poor speech Ichthyosis Intellectual disability, mild Mitral valve prolapse Atrial septal defect Cardiomyopathy Delayed speech and language development Microcephaly Global developmental delay Seizures Limb-girdle muscle atrophy Progressive ophthalmoplegia Progressive proximal muscle weakness Mitochondrial myopathy Cystinuria Tented upper lip vermilion Hypergonadotropic hypogonadism Narrow forehead Dilated cardiomyopathy Hypogonadism Feeding difficulties Short stature Muscle fiber inclusion bodies Type 1 muscle fiber predominance Progressive cerebellar ataxia Difficulty running Torticollis Hearing impairment Minicore myopathy Myofibrillar myopathy Delayed gross motor development Joint hypermobility Kyphoscoliosis Muscular hypotonia Fatty replacement of skeletal muscle Congenital hip dislocation Nystagmus Dyspnea Cognitive impairment Wrist drop Hand muscle atrophy Muscle fiber atrophy Neck flexor weakness Achilles tendon contracture Reduced tendon reflexes Ataxia Spasticity Difficulty climbing stairs Peripheral demyelination Poor head control Calf muscle hypertrophy Dysphagia Fatigue Axonal degeneration Sensorimotor neuropathy Clumsiness Split hand Sensory impairment Peripheral neuropathy Postural instability Polyneuropathy Inability to walk Distal sensory impairment Unsteady gait Abnormality of the foot Pes cavus Babinski sign Cerebellar atrophy Mitochondrial depletion


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