Myopathy, and Waddling gait

Diseases related with Myopathy and Waddling gait

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


Top matches:

High match DISTAL ANOCTAMINOPATHY


Distal anoctaminopathy is a rare, autosomal recessive distal myopathy characterized by early adult-onset, slowly progressive, often asymmetrical, lower limb muscle weakness initially affecting the calves (with relative anterior muscle sparing) and later proximal muscle involvement, as well as highly elevated creatine kinase (CK) serum levels.

DISTAL ANOCTAMINOPATHY Is also known as miyoshi muscular dystrophy type 3|mmd3|miyoshi myopathy 3

Related symptoms:

  • Muscle weakness
  • Myopathy
  • Elevated serum creatine phosphokinase
  • Proximal muscle weakness
  • Myalgia


SOURCES: OMIM ORPHANET MENDELIAN

More info about DISTAL ANOCTAMINOPATHY

High match SPHEROID BODY MYOPATHY


Spheroid body myopathy is a rare form of myofibrillar myopathy characterized by predominantly proximal muscle weakness (that could be either non- or slowly progressive), associated with spheroid body inclusions (composed of myofilamentous material within individual muscle fibers) in skeletal muscle biopsy. Presentation is varied and may range from asymptomatic to severe muscle weakness that manifests with absent Achilles reflexes, gait abnormality and/or other motor incapacitations.

Related symptoms:

  • Muscle weakness
  • Tremor
  • Dysphagia
  • Myopathy
  • Abnormality of metabolism/homeostasis


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about SPHEROID BODY MYOPATHY

High match MUSCLE FILAMINOPATHY


Muscle filaminopathy is a rare myofibrillar myopathy characterized by slowly progressive, proximal skeletal muscle weakness, which is initially more prominent in lower extremities and involves upper extremities with disease progression. Patients present with difficulty climbing stairs, a waddling gait, marked winging of scapula, lower back pain, paresis of limb girdle musculature, hypo-/areflexia and/or mild facial muscle weakness in rare cases. Respiratory muscle weakness is common and cardiac anomalies (conduction blocks, tachycardia, diastolic dysfunction, left ventricular hypertrophy) have been reported in some cases.

MUSCLE FILAMINOPATHY Is also known as myopathy, myofibrillar, filamin c-related|filaminopathy, autosomal dominant

Related symptoms:

  • Muscle weakness
  • Pain
  • Respiratory insufficiency
  • Areflexia
  • Elevated serum creatine phosphokinase


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about MUSCLE FILAMINOPATHY

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Other less relevant matches:

High match CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2CC; CMT2CC


Axonal Charcot-Marie-Tooth disease type 2CC is an autosomal dominant peripheral neuropathy that predominantly affects the lower limbs, resulting in muscle weakness and atrophy and gait impairment. Other features include distal sensory impairment and less severe involvement of the upper limbs. The age at onset and severity are variable (summary by Rebelo et al., 2016).For a phenotypic description and a discussion of genetic heterogeneity of axonal CMT type 2, see CMT2A (OMIM ).

CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2CC; CMT2CC Is also known as charcot-marie-tooth neuropathy, type 2cc

Related symptoms:

  • Muscle weakness
  • Peripheral neuropathy
  • Gait disturbance
  • Myopathy
  • Hyporeflexia


SOURCES: OMIM MENDELIAN

More info about CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2CC; CMT2CC

High match ZEBRA BODY MYOPATHY


Zebra body myopathy is a benign congenital myopathy, characterised by congenital hypotonia and weakness. Prevalence is unknown. Less than ten patients have been described so far. Muscle biopsy shows zebra bodies and other myopathic changes. Mutations of the alpha-skeletal actin (ACTA1) gene may be involved.

Related symptoms:

  • Global developmental delay
  • Elevated serum creatine phosphokinase
  • Neonatal hypotonia
  • Proximal muscle weakness
  • Facial palsy


SOURCES: ORPHANET MENDELIAN

More info about ZEBRA BODY MYOPATHY

High match SCAPULOPERONEAL MYOPATHY, X-LINKED DOMINANT; SPM


SCAPULOPERONEAL MYOPATHY, X-LINKED DOMINANT; SPM Is also known as scapuloperoneal myopathy, fhl1-related

Related symptoms:

  • Flexion contracture
  • Skeletal muscle atrophy
  • Myopathy
  • Arrhythmia
  • Hyporeflexia


SOURCES: OMIM MENDELIAN

More info about SCAPULOPERONEAL MYOPATHY, X-LINKED DOMINANT; SPM

High match MYASTHENIC SYNDROME, CONGENITAL, 12; CMS12


Congenital myasthenic syndrome-12 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 Senderek et al., 2011).For a discussion of genetic heterogeneity of CMS, see CMS1A (OMIM ).

MYASTHENIC SYNDROME, CONGENITAL, 12; CMS12 Is also known as myasthenic syndrome, congenital, with tubular aggregates 1|cmsta1

Related symptoms:

  • Muscle weakness
  • Ptosis
  • Motor delay
  • Cardiomyopathy
  • Myopathy


SOURCES: OMIM MENDELIAN

More info about MYASTHENIC SYNDROME, CONGENITAL, 12; CMS12

High match PROGRESSIVE SCAPULOHUMEROPERONEAL DISTAL MYOPATHY


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

High match CONGENITAL MUSCULAR DYSTROPHY WITH INTEGRIN ALPHA-7 DEFICIENCY


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

High match NEMALINE MYOPATHY 7; NEM7


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

Top 5 symptoms//phenotypes associated to Myopathy and Waddling gait

Symptoms // Phenotype % cases
Muscle weakness Common - Between 50% and 80% cases
Elevated serum creatine phosphokinase Common - Between 50% and 80% cases
Proximal muscle weakness Common - Between 50% and 80% cases
Distal muscle weakness Uncommon - Between 30% and 50% cases
Myofibrillar myopathy Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Facial palsy Nemaline bodies Gowers sign Foot dorsiflexor weakness Gait disturbance Progressive muscle weakness Areflexia Muscle fiber splitting Increased variability in muscle fiber diameter Muscular dystrophy Hyporeflexia Neck muscle weakness Lower limb muscle weakness Generalized hypotonia Difficulty climbing stairs Motor delay

Rare Symptoms - Less than 30% cases


Difficulty walking Hyperlordosis Rimmed vacuoles Scoliosis Skeletal muscle atrophy Frequent falls Falls Neck flexor weakness Neonatal hypotonia Myalgia Scapular winging Proximal amyotrophy Centrally nucleated skeletal muscle fibers Torticollis Respiratory insufficiency Respiratory insufficiency due to muscle weakness Steppage gait Confusion Ophthalmoplegia Scapuloperoneal amyotrophy Scapuloperoneal myopathy Ptosis Cardiomyopathy Easy fatigability Muscle cramps Increased connective tissue Ophthalmoparesis Congenital hip dislocation Delayed gross motor development Joint hypermobility Kyphoscoliosis High palate Muscular hypotonia Fatty replacement of skeletal muscle Congenital muscular dystrophy Infantile muscular hypotonia Dyspnea Mildly elevated creatine phosphokinase Cognitive impairment Intellectual disability Wrist drop Hand muscle atrophy Muscle fiber atrophy Achilles tendon contracture Reduced tendon reflexes EMG: decremental response of compound muscle action potential to repetitive nerve stimulation Fatigable weakness Arrhythmia Upper limb amyotrophy Flexion contracture Broad-based gait Muscle fiber cytoplasmatic inclusion bodies Abnormal peripheral nervous system morphology Low back pain Back pain Pain Absent Achilles reflex Nasal speech Abnormality of metabolism/homeostasis Babinski sign Dysphagia Tremor Quadriceps muscle atrophy Difficulty running Calf muscle hypertrophy Exercise intolerance Limb muscle weakness Peripheral neuropathy Pes cavus Handgrip myotonia Lower limb amyotrophy Muscle fiber necrosis Autophagic vacuoles Axial muscle weakness Limb-girdle muscular dystrophy EMG: myopathic abnormalities Decreased fetal movement Global developmental delay Upper limb muscle weakness Peripheral axonal neuropathy EMG: neuropathic changes Sensory axonal neuropathy Impaired vibratory sensation Pyloric stenosis Ragged-red muscle fibers Sensorimotor neuropathy Sensory impairment Distal sensory impairment Minicore myopathy



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